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Total 293 results found since Jan 2013.
De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria.
CONCLUSION: This is the first observation of a heterozygous mutation in the MBD5 gene associated with a neuronal migration disorder. PMID: 31820818 [PubMed - in process]
Source: Revista de Neurologia - December 12, 2019 Category: Neurology Authors: Castro-Gago M, Gómez-Lado C, Barros-Angueira F, Trujillo-Ariza MV, Fuentes-Pita P, López-Vázquez AM, Eirís-Puñal J Tags: Rev Neurol Source Type: research
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
We describe a severe neurological disorder caused by bi-allelic loss-of-function variants in thioredoxin (TRX)-related transmembrane-2 (TMX2); these variants were detected by exome sequencing in 14 affected individuals from ten unrelated families presenting with congenital microcephaly, cortical polymicrogyria, and other migration disorders.
Source: The American Journal of Human Genetics - November 14, 2019 Category: Genetics & Stem Cells Authors: Laura V. Vandervore, Rachel Schot, Chiara Milanese, Daphne J. Smits, Esmee Kasteleijn, Andrew E. Fry, Daniela T. Pilz, Stefanie Brock, Esra B örklü-Yücel, Marco Post, Nadia Bahi-Buisson, María José Sánchez-Soler, Marjon van Slegtenhorst, Boris Keren Tags: Article Source Type: research
Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature
We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI.
Source: Brain and Development - October 31, 2019 Category: Neurology Authors: Luciana Midori Inuzuka, L úcia Inês Macedo-Souza, Bruno Della-Ripa, Katiane S.S. Cabral, Fabiola Monteiro, João Paulo Kitajima, Luis Filipe de Souza Godoy, Daniel de Souza Delgado, Fernando Kok, Eliana Garzon Tags: Case Report Source Type: research
Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion
We report a new patient who presented with dysmorphic features and congenital heart disease. In addition, her brain magnetic resonance imaging revealed leukoencephalopathy, cavum septum pellucidum, perisylvian polymicrogyria, and focal occipital pachygyria. Her regular karyotype showed 46,XX add 6 (p25) due to malsegregation of a maternal balanced translocation 46,XX,t(6;7)(p25;q33) while the array-comparative genomic hybridization identified a 3.307 Mb heterozygous deletion at 6p25.3-p25.2 and 23.95 Mb duplication at 7q33-q36.3. A previous patient with the same developmental brain malformations and leukoencephalopathy wit...
Source: Neuropediatrics - October 21, 2019 Category: Neurology Authors: Eid, Maha Eid, Ola Hegazy, Ibrahim Girgis, Marian Mohamed, Amal Abdel-Salam, Ghada M.H. Tags: Short Communication Source Type: research
Polymicrogyria : MRI Teaching Case
Discussion -Polymicrogyria is one of the most common malformations of cortical developmentin which the process of normal cerebral cortical development is disturbed late in the stage of neuronal migration or early in the stage of cortical organization, thus considered a disorder of neuronal organization.1. Causes - Congenital infection (particularly cytomegalovirus infection). - Localized or diffuse in utero ischemia. - Mutations.2. Clinical profile - ranging f...
Source: Sumer's Radiology Site - October 20, 2019 Category: Radiology Authors: Sumer Sethi Source Type: blogs
Multiple Stereoelectroencephalography-Guided Radiofrequency Thermocoagulations for Polymicrogyria With Startle Seizures: A Case Report
We report a rare case of polymicrogyria (PMG) combined with drug-resistant startle seizures. Presurgical monitoring was performed using SEEG owing to the large lesion and complexity of PMG. According to the intracranial electrode results, the seizure onset was extensive, with the onset starting earlier in the cingulate sulcus and insular pole than in other sites of the other electrodes. Multi-point and multi-step SEEG-guided RF-TC was used for diffuse lesion and functional protection. RF-TC was first applied to the cingulate sulcus and insular pole, and our patient was rendered free from startle seizures after 2 weeks. Two...
Source: Frontiers in Neurology - October 18, 2019 Category: Neurology Source Type: research
Stereo-eeg ictal/interictal patterns and underlying pathologies
Conclusion: The study demonstrates that specific histopathologies correlate with particular neurophysiological patterns, reflecting lesion-specific seizure patterns in focal epilepsies.
Source: Seizure - October 6, 2019 Category: Neurology Source Type: research
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.
We present the case of a male infant with bilateral perisylvian polymicrogyria associated with a de novo duplication of chromosome region 17p13.3p13.2. To our knowledge, this is the first report of polymicrogyria associated with the 17p13.3 contiguous gene duplication syndrome. Testing for known monogenic causes of polymicrogyria was negative and there was no clinical evidence of an acquired prenatal cause. Given the critical, dose-sensitive role that the 17p13.3 region plays in brain development we suggest that the chromosome duplication is the most likely explanation for the polymicrogyria. Clinical and functional studie...
Source: European Journal of Medical Genetics - October 1, 2019 Category: Genetics & Stem Cells Authors: Stutterd CA, Francis D, McGillivray G, Lockhart PJ, Leventer RJ Tags: Eur J Med Genet Source Type: research
Central Sulcus Misfolding: Polarity Reversal of SSEP N20 Potential in "layered" Polymicrogyria.
Authors: Hale T, Knecht A, Barbarevech K, Yue Q Abstract Paradoxical cortical potential polarity of the upper extremity somatosensory evoked potential (SSEP) has been reported in cases of polymicrogyria (PMG) syndrome. To date, the pathophysiological basis of this electrophysiological aberration remains under investigation. Here we present a case of mild PMG that showed "layered" microgyri in the left frontoparietal cortices affecting both hand and foot sensorimotor areas. The SSEP recordings revealed an isolated polarity reversal of N20 from the dysplastic cortex. We postulate a central sulcus misfolding theory to...
Source: The Neurodiagnostic Journal - September 7, 2019 Category: Neurology Tags: Neurodiagn J Source Type: research
Parasagittal Hemispherotomy in hemispheric Polymicrogyria with electrical status epilepticus during slow sleep: Indications, Results and Follow-up
Polymicrogyria is one of the most frequently occurring brain malformation and is characterized by an excessive number of small gyri associated with lamination abnormalities (either a four layer lamination or a dyslamination). PMG is a heterogeneous malformation with variable localizations within the brain. An overview of all the topographic types of PMG shows that unilateral hemispheric PMGs are rare (2/328) .
Source: Seizure: European Journal of Epilepsy - July 23, 2019 Category: Neurology Authors: Martine Fohlen, Georg Dorfm üller, Sarah Ferrand-Sorbets, Nathalie Dorison, Mathilde Chipaux, Delphine Taussig Source Type: research
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
This study shows how two independent mutations can interact leading to complex brain malformations.
Source: Neurogenetics - April 13, 2019 Category: Genetics & Stem Cells Source Type: research
Amniotic Bands and associated Polymicrogyria: In Favor of a unique Ischemic Cause
We present a case of multiple amniotic bands with spontaneous release of the fetus during pregnancy and, at birth, foot malposition and skin scars. Additional occurrence of neurodevelopmental disorders associated with polymicrogyria led to the hypothesis of common vascular etiology.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - March 20, 2019 Category: OBGYN Authors: Florence Feucht Tags: Short communication Source Type: research
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.
Abstract Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S. GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. Turk J Pediatr 2018; 60: 229-237. Polymicrogyria is a disorder of neuronal migration characterized by excessive cortical folding and partially fused gyri separated by shallow sulci. Homozygous mutations in the GPR56 gene, which regulates migration of neural precursor cells, are associated with bilateral frontoparietal polymicrogyria (BFPP) syndrome includi...
Source: The Turkish Journal of Pediatrics - December 5, 2018 Category: Pediatrics Authors: Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S Tags: Turk J Pediatr Source Type: research
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
Abstract Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. We identified, by trio based whole exome sequencing, a homozygous missense mutation in the RTTN gene (c.2953A > G; p.(Arg985Gly)) in one Moroccan patient from a consanguineous family. The patient showed early onset primary microcephaly, detected in the fetal period, postnatal growth restriction, encephalopathy with hyperkinetic movement disorders and s...
Source: European Journal of Medical Genetics - August 16, 2018 Category: Genetics & Stem Cells Authors: Cavallin M, Bery A, Maillard C, Salomon LJ, Bole C, Reilly ML, Nitschké P, Boddaert N, Bahi-Buisson N Tags: Eur J Med Genet Source Type: research
Assessing Corticospinal Tract Asymmetry in Unilateral Polymicrogyria PEDIATRICS
CONCLUSIONS: Visual assessment of corticospinal tract asymmetry in unilateral polymicrogyria involving the motor cortex is most reliable with T1WI and color-coded DTI maps at the level of the midbrain. Pronounced asymmetry predicts preserved motor function after hemispherectomy. DTI-based tractography can be used as a guidance tool to the motor cortex within polymicrogyria.
Source: American Journal of Neuroradiology - August 14, 2018 Category: Radiology Authors: Foesleitner, O., Nenning, K.- H., Traub-Weidinger, T., Feucht, M., Bonelli, S., Czech, T., Dorfer, C., Prayer, D., Kasprian, G. Tags: PEDIATRICS Source Type: research
Polymicrogyria in association with hypoglycemia points to mutation in the PI3K-AKT-mTOR pathway.
We report a 16-month-old male with congenital megalencephaly, polymicrogyria and persistent hypoglycemia caused by a mosaic PIK3CA pathogenic variant. Hypoinsulinaemic, hypoketotic hypoglycaemia is a rare complication of pathogenic variants in the PI3K-AKT-mTOR pathway genes including AKT2, AKT3, CCND2, PIK3R2 and PIK3CA, and has been identified in a PIK3CA mutant mouse model. Our case highlights the importance of considering PI3K-AKT-mTOR pathway variants as a cause for megalencephaly and cortical malformation when the phenotype includes hypoglycaemia. Recognizing the association of hypoglycemia with PI3K-AKT-mTOR pathway...
Source: European Journal of Medical Genetics - June 5, 2018 Category: Genetics & Stem Cells Authors: Stutterd C, McGillivray G, Stark Z, Messazo B, Cameron F, White S, Mirzaa G, Leventer R Tags: Eur J Med Genet Source Type: research
Effectiveness of total corpus callosotomy for diffuse bilateral polymicrogyria: Report of three pediatric cases
Polymicrogyria, a malformation of the cerebral cortex, frequently causes epilepsy. Diffuse bilateral polymicrogyria (DBP) is related to poor epilepsy prognosis, but most patients with DBP are not good candidates for resective epilepsy surgery and effectiveness of corpus callosotomy (CC), a palliative surgery, for patients without resective epileptogenic cortices, has not been established in DBP. Because CC might be effective against DBP-related epilepsy, we conducted total CC in three pediatric DBP cases.
Source: Brain and Development - April 3, 2018 Category: Neurology Authors: Shimpei Baba, Tohru Okanishi, Mitsuyo Nishimura, Sotaro Kanai, Shinji Itamura, Takayuki Suzuki, Yosuke Masuda, Hideo Enoki, Ayataka Fujimoto Tags: Case report Source Type: research
Polymicrogyria and GRIN1 mutations: altered connections, altered excitability
This scientific commentary refers to ‘De novo mutations inGRIN1 cause extensive bilateral polymicrogyria ’, by Fryet al. (doi:10.1093/brain/awx358).
Source: Brain - February 27, 2018 Category: Neurology Source Type: research
Commentary on "Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea".
Authors: Park SM, Kim BS, Kim MB, Ko HC PMID: 29441111 [PubMed]
Source: Korean Journal of Pediatrics - February 16, 2018 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
AbstractSee Crino (doi:10.1093/brain/awy047) for a scientific commentary on this article.Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we foundde novo heterozygous missenseGRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine furtherde novo missenseGRIN1 mutations in additional cortical malformation patients. Shared features in the patients were extensive bilateral polymicrogyria associated with severe developmental delay, postnatal microcephaly, cortical visual impairment and intractable epile...
Source: Brain - January 22, 2018 Category: Neurology Source Type: research
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy
We report an individual with global delays, seizures, and polymicrogyria that extends beyond the occipital lobes and includes the frontal, parietal, temporal, and occipital lobes. Next-generation sequencing identified a homozygous nonsense mutation inLAMC3: c.3190C>T (p.Gln1064*). This finding extends the cortical phenotype associated withLAMC3 mutations.
Source: Neurogenetics - January 1, 2018 Category: Genetics & Stem Cells Source Type: research
Stereoelectroencephalography and surgical outcome in polymicrogyria ‐related epilepsy: A multicentric study
ObjectiveWe aimed to (1) assess the concordance between various polymicrogyria (PMG) types and the associated epileptogenic zone (EZ), as defined by stereoelectroencephalography (SEEG), and (2) determine the postsurgical seizure outcome in PMG‐related drug‐resistant epilepsy. MethodsWe retrospectively analyzed 58 cases: 49 had SEEG and 39 corticectomy or hemispherotomy. ResultsMean age at SEEG or surgery was 28.3 years (range, 2–50). PMG was bilateral in 9 (16%) patients and unilateral in 49, including 17 (29%) unilobar, 12 (21%) multilobar, 15 (26%) perisylvian, and only 5 (9%) hemispheric. Twenty‐eight (48%) pati...
Source: Annals of Neurology - November 11, 2017 Category: Neurology Authors: Louis Georges Maillard, Laura Tassi, Fabrice Bartolomei, H élène Catenoix, François Dubeau, William Szurhaj, Philippe Kahane, Anca Nica, Petr Marusic, Ioana Mindruta, Francine Chassoux, Georgia Ramantani Tags: Research Article Source Type: research
Polymicrogyria and Intractable Epilepsy in Siblings with Knobloch Syndrome and Homozygous Mutation of COL18A1
We present an unusual case of two brothers with severe global developmental delay, medically intractable epilepsy, diffuse polymicrogyria, and high myopia, born to non-consanguineous parents of Palestinian ethnicity.
Source: Pediatric Neurology - August 15, 2017 Category: Neurology Authors: Brittany A. Charsar, Ethan M. Goldberg Tags: Clinical Letter Source Type: research
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.
This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made. Whole exome sequencing of two affected sisters followed by filtering for rare and potentially disease causing variants in all genes identified compound heterozygous variants in NM_030582.3 (COL18A1): c.3690G > A: p.(Trp1230*) and NM_030582.3 (COL18A1): c.4063_4064delCT: p.(Leu1355Valfs*72). The two variants co-segregated with the affected individuals in the fami...
Source: European Journal of Medical Genetics - June 8, 2017 Category: Genetics & Stem Cells Authors: Corbett MA, Turner SJ, Gardner A, Silver J, Stankovich J, Leventer RJ, Derry CP, Carroll R, Ha T, Scheffer IE, Bahlo M, Jackson GD, Mackey DA, Berkovic SF, Gecz J Tags: Eur J Med Genet Source Type: research
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.
Abstract Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll and colleagues reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterised by early onset seizures, progressive microcephaly, severe developmental delay and deep cortical gray matter and basal ganglia calcification with symmetrical, predominantly fronto-parietal, polymicrogyria. Here we report four...
Source: Clinical Genetics - April 7, 2017 Category: Genetics & Stem Cells Authors: Jenkinson EM, Livingston JH, O'Driscoll MC, Desguerre I, Nabbout R, Boddaert N, Soares G, Gonçalves da Rocha M, D'Arrigo S, Rice GI, Crow YJ Tags: Clin Genet Source Type: research
Clinical Neuropathology teaching case 2-2017: polymicrogyria in an adult with right-sided spastic hemiparesis.
PMID: 28220750 [PubMed - as supplied by publisher]
Source: Clinical Neuropathology - February 21, 2017 Category: Pathology Authors: Gelpi E, Höftberger R, Beer A, Hainfellner JA Tags: Clin Neuropathol Source Type: research
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation
We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis. Her MRI demonstrated ACC with frontoparietal polymicrogyria, severe hypomyelination, and pontocerebellar atrophy. This prenatal presentation of malformations of cortical development in combination with ACC expands the EPG5‐related phen...
Source: American Journal of Medical Genetics Part A - February 7, 2017 Category: Genetics & Stem Cells Authors: Camille Maillard, Mara Cavallin, Kevin Piquand, Marion Philbert, Jean Philippe Bault, Anne Elodie Millischer, Despina Moshous, Marl ène Rio, Cyril Gitiaux, Nathalie Boddaert, Cecile Masson, Sophie Thomas, Nadia Bahi‐Buisson Tags: Clinical Report Source Type: research
Genetics Home Reference: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Source: NLM General Announcements - February 2, 2017 Category: Databases & Libraries Source Type: news
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.
Authors: Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS Abstract Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have a...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Second opinion gives unborn baby second chance
Seven-month-old Charlotte Bent is hitting all of her developmental milestones — smiling, laughing, playing peek-a-boo, bearing weight on her legs. Her parents, Jennifer and Keith, are overjoyed. “It’s a complete 180-degree turn from where we thought we would be this time last year,” says Jennifer. After struggling to conceive their second child, the couple was thrilled when Jennifer became pregnant. The results of genetic testing were normal and confirmed they would be welcoming a daughter in April. Jennifer felt the baby’s first kicks on Nov. 23, 2015. The next day, she was scheduled for an anatomy scan. “At f...
Source: Thrive, Children's Hospital Boston - November 29, 2016 Category: Pediatrics Authors: Lisa Fratt Tags: Our Patients’ Stories Advanced Fetal Care Center bilateral perisylvian polymicrogyria Dr. Benjamin Warf Dr. Christopher Elitt Second opinion ventriculomegaly Source Type: news
The Role of Diffusion-Weighted Imaging in the Evaluation of the Whole Brain in Isolated Unilateral Polymicrogyria
The aim is to evaluate normal-appearing brain regions in isolated unilateral polymicrogyria patients and compare them with controls by using diffusion-weighted imaging and apparent diffusion coefficient. The diffusion-weighted images (b = 0-1000 s/mm2) of 10 pediatric patients (7 boys, 3 girls; mean age = 5.8 ± 4.3 years) with isolated unilateral polymicrogyria and age-sex matched 10 control patients were assessed retrospectively. There was a significant increase in apparent diffusion coefficient values of white matter underlying polymicrogyria, uninvolved white matter, deep gray matter (thalami, lentiform nuclei, c...
Source: Journal of Child Neurology - November 8, 2016 Category: Neurology Authors: Görkem, S. B., Doganay, S., Gumus, K., Bayram, A., Kumandas, S., Coskun, A. Tags: Original Articles Source Type: research
Surgical treatment of polymicrogyria ‐related epilepsy
Summary ObjectiveThe role of resective surgery in the treatment of polymicrogyria (PMG)–related focal epilepsy is uncertain. Our aim was to retrospectively evaluate the seizure outcome in a consecutive series of patients with PMG‐related epilepsy who received, or did not receive, surgical treatment, and to outline the clinical characteristics of patients who underwent surgery. MethodsWe evaluated 64 patients with epilepsy associated with magnetic resonance imaging (MRI)–documented PMG. After presurgical evaluation, 32 patients were excluded from surgical treatment and 32 were offered surgery, which was declined by 8 ...
Source: Epilepsia - October 25, 2016 Category: Neurology Authors: Massimo Cossu, Veronica Pelliccia, Francesca Gozzo, Giuseppe Casaceli, Stefano Francione, Lino Nobili, Roberto Mai, Laura Castana, Ivana Sartori, Francesco Cardinale, Giorgio Lo Russo, Laura Tassi Tags: Full ‐Length Original Research Source Type: research
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A
AbstractCutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form ofATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis). One of the patients has myoclonic epilepsy which may have contributed to his more severe clinical presentat...
Source: Neurogenetics - September 8, 2016 Category: Genetics & Stem Cells Source Type: research
The pathology of incipient polymicrogyria
To characterise the early tissue changes of post encephaloclastic polymicrogyria in the human fetus.
Source: Brain and Development - July 9, 2016 Category: Neurology Authors: Phedias Diamandis, David Chitayat, Ants Toi, S. Blaser, Patrick Shannon Tags: Original article Source Type: research
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation
Megalencephalic polymicrogyria syndromes include megalencephaly-capillary malformation and megalencephaly-polymicrogyria-polydactyly-hydrocephalus. Recent genetic studies have identified that genes in the PI3K-AKT pathway are involved in the pathogenesis of these disorders. Herein, we report a patient who presented with developmental delay, epilepsy and peculiar neuroimaging findings of megalencephaly, polymicrogyria, and symmetrical band heterotopia in the periventricular region. The heterotopias exhibited inhomogeneous signals with undulatory mixtures of gray and white matter, resembling ribbon-like heterotopia, with a p...
Source: Brain and Development - July 3, 2016 Category: Neurology Authors: Yu Kobayashi, Shinichi Magara, Kenichi Okazaki, Takao Komatsubara, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato, Jun Tohyama Tags: Case Report Source Type: research
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS
Conclusions: The polymicrogyria/CSWS syndrome is likely caused by a cortico-thalamic malformation complex and is characterized by remission of epilepsy within early adolescence. Early assessment of hemispheric and thalamic volumes in children with polymicrogyria and epilepsy can reliably predict CSWS.
Source: Neurology - March 28, 2016 Category: Neurology Authors: Bartolini, E., Falchi, M., Zellini, F., Parrini, E., Grisotto, L., Cosottini, M., Posar, A., Parmeggiani, A., Ambrosetto, G., Ferrari, A. R., Santucci, M., Salas-Puig, J., Barba, C., Guerrini, R. Tags: All Pediatric, All Epilepsy/Seizures, EEG, Volumetric MRI use in epilepsy ARTICLE Source Type: research
Visual sensory and ocular motor function in children with polymicrogyria: relationship to magnetic resonance imaging
Conclusions All children with PMG had recordable visual function either by visual acuity or VEP testing, however the majority did not show longitudinal improvement in acuity. Seizures may impose limits on visual acuity development. Children with cytomegalovirus-related PMG, microcephaly, and developmental delay can have normal visual acuity. Children with a recordable VEP but without visually guided behaviors may have a defect in sensorimotor transformation.
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - February 23, 2016 Category: Opthalmology Source Type: research
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia
dice & Alexandre Reymond
Source: European Journal of Human Genetics - February 10, 2016 Category: Genetics & Stem Cells Authors: Gaetano TerroneNorine VoisinAli Abdullah AlfaizGerarda CappuccioGiuseppina VitielloNicolas GuexAlessandra D’AmicoA James BarkovichNicola Brunetti-PierriEnnio Del GiudiceAlexandre Reymond Source Type: research
Visual sensory and ocular motor function in children with polymicrogyria: relationship to magnetic resonance imaging
To assess visual and ocular motor function in children with polymicrogyria (PMG).
Source: Journal of AAPOS - February 1, 2016 Category: Opthalmology Authors: John P. Kelly, Gisele E. Ishak, James O. Phillips, Ho Nguyen, Avery H. Weiss Tags: Major Article Source Type: research
Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.
Abstract Band like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a distinct neuroradiological phenotype initially reported as a pseudo-TORCH syndrome and known to result from biallelic mutations in the Occludin(OCLN) gene. This is report of a family of Indian origin with two affected sibs and segregation of a homozygous novel OCLN mutation in the exon 3(NG_028291.1(OCLN_v001):c.252delC). A literature review suggests that renal dysfunction may be an unrecognized phenotypic manifestation of OCLN mutations and monitoring for the same should form part of the clinical care of these individuals....
Source: European Journal of Medical Genetics - December 12, 2015 Category: Genetics & Stem Cells Authors: Aggarwal S, Bahal A, Dalal A Tags: Eur J Med Genet Source Type: research
Surgical management of medically refractory epilepsy in patients with polymicrogyria
Summary ObjectivePolymicrogyria (PMG) is a malformation of cortical development characterized by formation of an excessive number of small gyri. Sixty percent to 85% of patients with PMG have epilepsy that is refractory to medication, but surgical options are usually limited. We characterize a cohort of patient with polymicrogyria who underwent epilepsy surgery and document seizure outcomes. MethodsA retrospective study of all patients with PMG who underwent epilepsy surgery (focal seizure foci resection and/or hemispherectomy) at our center was performed by review of all clinical data related to their treatment. ResultsWe...
Source: Epilepsia - December 9, 2015 Category: Neurology Authors: Doris D. Wang, Renatta Knox, John D. Rolston, Dario J. Englot, A. James Barkovich, Tarik Tihan, Kurtis I. Auguste, Robert C. Knowlton, Susannah B. Cornes, Edward F. Chang Tags: Full‐Length Original Research Source Type: research
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
Publication date: Available online 29 October 2015 Source:The Lancet Neurology Author(s): Ghayda M Mirzaa, Valerio Conti, Andrew E Timms, Christopher D Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B Hufnagel, Amy Goldstein, Yoko Narumi-Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean-François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison Goetsch, Beth Martin, Evan August Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B Dobyns, Renzo Guerrini Background...
Source: The Lancet Neurology - October 30, 2015 Category: Neurology Source Type: research
Comment PIK-ing the right gene for polymicrogyria
The notion that malformations of cortical development could have a genetic basis was regarded as almost ludicrous just 10 years ago. With the advent of the new genomic massively parallel sequencing technologies, the landscape has transformed. Now, genetic factors are considered first when searching for the cause of malformations of cortical development that have marked genetic and phenotypic heterogeneity.1 In The Lancet Neurology, Ghayda Mirzaa and colleagues2 essentially solve the genetic basis of the most common form of regional polymicrogyria—namely, bilateral perisylvian polymicrogyria (BPP).
Source: Lancet Neurology - October 29, 2015 Category: Neurology Authors: Ingrid E Scheffer Tags: Comment Source Type: research
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts
We describe two Polish female siblings aged 5 and 10 years with compound heterozygous mutations in POLR3B. They both presented with similar clinical symptoms and MRI findings presenting as 4H leukodystrophy, and the association of polymicrogyria and cataract. According to our observation in young children with the absence of hypogonadotropic hypogonadism, brain MRI pattern is very essential in proper early diagnosis of 4H leukodystrophy. All clinical and radiological results are of course helpful, however genetic conformation is always necessary.
Source: Clinical Neuroradiology - October 19, 2015 Category: Neurology Source Type: research
GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients
Bilateral frontoparietal polymicrogyria is an autosomal recessive cortical malformation associated with abnormalities of neuronal migration, white matter changes, and mild brainstem and cerebellar abnormalities. Affected patients present with delayed milestones, intellectual disability, epilepsy, ataxia, and eye movement abnormalities. The clinicoradiologic profile resembles congenital muscular dystrophy. However, no muscle disease or characteristic eye abnormalities of congenial muscular dystrophy are detected in these children. GPR56 is the only confirmed gene associated with bilateral frontoparietal polymicrogyria. Ante...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Desai, N. A., Udani, V. Tags: Original Articles Source Type: research
Spinal Muscular Atrophy-Lower Extremity Dominant (SMA-LED), with bilateral perisylvian polymicrogyria and infantile epileptic encephalopathy, due a novel mutation
We report a novel de-novo mutation in the Dynein, cytoplasmic1, heavy chain1 (DYNC1H1) gene presenting with the clinical phenotype of sporadic congenital SMA-LED, lower limb contractures, perisylvian polymicrogyria and epileptic encephalopathy. We report a male infant born to non-consanguineous parents, with fetal akinesia and oligohydramnios detected at 20 weeks gestation. At birth, arthrogryposis was evident with bilateral hip dislocation. Dysmorphic features: shallow orbits, high-arched palate, posteriorly rotated ears, spatulate digits and ulnar drift raised suspicion of a connective tissue disorder.
Source: Neuromuscular Disorders - September 11, 2015 Category: Neurology Authors: J. Singh, M. Illingworth, A. Whitney, D. Konn, N. Foulds, D. Allen, M. Uglow Source Type: research