A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.

In conclusion; Beta-Propeller Protein Associated Neurodegeneration should be considered as an option in the diagnosis of female patients with clinical findings of epilepsy, growth retardation and autism, with unspecified etiology. PMID: 32253874 [PubMed - in process]
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research

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Abstract Patients with Cowden syndrome exhibit mucocutaneous lesions, hamartomatous polyposis of the gastrointestinal tract, and macrocephaly, often complicated by malignant tumors, such as breast, thyroid, and uterine cancers. Autism spectrum and epilepsy have been known as neuropsychiatric symptoms associated with Cowden syndrome; however, to the best of our knowledge, there is no report on cases complicated by schizophrenia. Here, we report a first case of Cowden syndrome complicated by schizophrenia. A 49-year-old Japanese woman started experiencing auditory hallucinations in her teens. She had left breast can...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Publication date: Available online 19 May 2020Source: Brain, Behavior, and ImmunityAuthor(s): Zachariah Z. Smith, Rebecca A. Kubiak, Mathew R. Arnold, Kelsey M. Loupy, Jeremy A. Taylor, Taylor G. Crist, Allison E. Bernier, Heather M. D'Angelo, Jared D. Heinze, Christopher A. Lowry, Daniel S. Barth
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
Abstract Autism spectrum disorders (ASDs) and epilepsy are often comorbid. The basis for this co-occurrence remains unknown; however, inflammatory stressors during development are a shared risk factor. To explore this association, we tested the effect of repeated immunizations using a heat-killed preparation of the stress-protective immunoregulatory microbe Mycobacterium vaccae NCTC 11659 (M. vaccae) on the behavioral and epileptogenic consequences of the combined stress-terbutaline (ST) rat model of ASD-like behavior/epilepsy. Repeated immunization of the dam with M. vaccae during pregnancy, followed by immunizat...
Source: Brain, Behavior, and Immunity - Category: Neurology Authors: Tags: Brain Behav Immun Source Type: research
CONCLUSIONS: Reported associations between in utero exposure to antidepressants and physical, neurodevelopmental, and psychiatric outcomes, in large part, seem to be driven by the underlying maternal disorder. When limiting confounding by indication, prenatal exposure to antidepressants was significantly associated only with offspring BMI and affective disorders. PMID: 32412703 [PubMed - as supplied by publisher]
Source: Journal of Clinical Psychiatry - Category: Psychiatry Tags: J Clin Psychiatry Source Type: research
In this study, NGS data from 137 participants with ASD were reviewed retrospectively with consideration for comorbid epilepsy. Diagnostic yield was 17.51% (24/137), and pathogenic/likely pathogenic variants were seen more frequently in female participants. Fourteen participants were diagnosed with comorbid epilepsy, six of them had pathogenic/likely pathogenic variants (43%). Genes with variants of unknown significance (VOUS) which have one or more evidence of pathogenicity following the American College of Medical Genetics (ACMG) criteria were also reviewed in both ASD and ASD with comorbid epilepsy groups. We found that ...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Mutations in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes, intellectual disability and autism in clinic. However, the path...
Source: Molecular Brain - Category: Neuroscience Authors: Tags: Research Source Type: research
Mutations in PACS2 gene are responsible for an early-onset developmental and epileptic encephalopathy, presenting with seizures starting within the first weeks of life. The phenotype of this new syndrome is also characterized by hypotonia, global developmental delay, intellectual disability with or without autistic features, mild facial dysmorphism and cerebellar dysgenesis with folia abnormalities. [1,2] PACS2 gene encodes for a multifunctional sorting protein highly expressed in cervical spinal cord and cerebellum and involved in mediating secretory pathway traffic and formation of contacts between endoplasmic reticulum ...
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research
In this report, we extend the phenotype of BBSOAS with ataxia and protein-losing enteropathy. This case is illustrative of the utility of whole exome sequencing in the diagnostic odyssey, and the potential pitfalls of relying on focused genetic testing results for diagnosis of conditions with complex overlapping phenotypes. PMID: 32407885 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
This article will summarise the current state of knowledge linking mutations in presynaptic genes to ne urodevelopmental disorders by sequentially covering the various stages of the synaptic vesicle life cycle. It will also discuss how perturbations of specific stages within this recycling process could translate into human disease. Finally, it will also provide perspectives on the potential for futur e therapy that are targeted to presynaptic function.
Source: Journal of Neurochemistry - Category: Neuroscience Authors: Tags: REVIEW Source Type: research
ConclusionsOur results indicate thatTsc1 haploinsufficiency in MGE-derived inhibitory cells upregulates mTORC1 activity in these interneurons, reduces their synaptic inhibition of pyramidal cells, and alters contextual fear discrimination and spatial working memory. Thus, selective dysregulation of mTORC1 function in Nkx2.1-expressing inhibitory cells appears sufficient to impair synaptic inhibition and contributes to cognitive deficits in theTsc1 mouse model of TSC.
Source: Molecular Autism - Category: Molecular Biology Source Type: research
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