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Total 442 results found since Jan 2013.
Epileptic encephalopathy with electrical status epilepticus during slow sleep: evaluation of treatment response from a tertiary center
CONCLUSIONS: ESES is an epileptic encephalopathy that can be treated safely with antiseizure medications. Neurocognitive examinations and follow-up of EEG findings are valuable in terms of the treatment response. Benzodiazepines were found to be very effective in additional treatment.PMID:35611419 | DOI:10.24953/turkjped.2020.2558
Source: The Turkish Journal of Pediatrics - May 25, 2022 Category: Pediatrics Authors: Bet ül Kılıç Mecit Acar Yasemin Top çu G üzide Turanlı Source Type: research
Hemidystonia with polymicrogyria is part of ATP1A3-related disorders
We report here a male patient with early developmental delay who at 12 months presented dystonia of the right arm which evolved into hemidystonia at the age of 2.
Source: Brain and Development - May 24, 2022 Category: Neurology Authors: Didier Lacombe, Julien Van-Gils, Marine Lebrun, Aur élien Trimouille, Vincent Michaud, Sara Cabet, Jean-François Chateil, Jean-Michel Pedespan, Claire Bar, Gaetan Lesca Tags: Case Report Source Type: research
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in < b > < i > ASPM < /i > < /b > and < b > < i > WDR62 < /i > < /b > Genes
Conclusion: Detection and reporting of novel variants is an important step in eliminating this disorder by providing families with appropriate genetic counseling.Mol Syndromol
Source: Molecular Syndromology - April 27, 2022 Category: Molecular Biology Source Type: research
Technical case report: intractable focal seizures related to bifrontal transmantle heterotopia subserving peculiar homotopic motor distribution treated by responsive neurostimulation therapy
AbstractNeuroPace responsive neurostimulation (RNS®) therapy was used in a case of intractable focal epilepsy with bifrontal transmantle heterotopia subserving peculiar homotopic motor distribution in a 16-year-old, right-handed male with intractable seizures. Brain MRI demonstrated bifrontal transmantle heterotopia extending from the central sulcus to subjacent lateral ventricles along with polymicrogyria along the overlying cortex suspected to be the motor cortex. Functional MRI demonstrated homotopic distribution of finger and foot motor function (deeper) within the polymicrogyria. Invasive intracranial monitoring with...
Source: Acta Neurochirurgica - April 12, 2022 Category: Neurosurgery Source Type: research
Cleft size and type are associate with development of epilepsy and poor seizure control in patients with schizencephaly
Schizencephaly is a rare congenital anomaly with polymicrogyric gray matter-lined clefts [1 –3]. Along with polymicrogyria, schizencephaly belongs to a group of malformations of cortical development occurring at the stage of neuronal organization [2, 4]. Patients with malformations of cortical development have a high prevalence of epilepsy, and many cases are medically refractory [5–7] . Although data from precise epidemiological studies are lacking, epilepsy has been reported in 37–74% of patients with schizencephaly [1, 8-10].
Source: Seizure: European Journal of Epilepsy - April 5, 2022 Category: Neurology Authors: Hyo Jae Kim, Yong Seo Koo, Mi-Sun Yum, Tae-Sung Ko, Sang-Ahm Lee Source Type: research
Cleft size and type are associated with development of epilepsy and poor seizure control in patients with schizencephaly
Schizencephaly is a rare congenital anomaly with polymicrogyric gray matter-lined clefts [1 –3]. Along with polymicrogyria, schizencephaly belongs to a group of malformations of cortical development occurring at the stage of neuronal organization [2,4]. Patients with malformations of cortical development have a high prevalence of epilepsy, and many cases are medically refractory [5–7]. Although data from precise epidemiological studies are lacking, epilepsy has been reported in 37–74% of patients with schizencephaly [1,8-10].
Source: Seizure: European Journal of Epilepsy - April 5, 2022 Category: Neurology Authors: Hyo Jae Kim, Yong Seo Koo, Mi-Sun Yum, Tae-Sung Ko, Sang-Ahm Lee Source Type: research
