Results 1 to 10 of about 6,465 (257)
Brivaracetam monotherapy in juvenile myoclonic epilepsy: a safety and efficacy evaluation [PDF]
Therapeutic Advances in Neurological DisordersBackground: The treatment of juvenile myoclonic epilepsy (JME) is limited, with most patients requiring long-term medication and over half experiencing seizure recurrence upon drug withdrawal.
Jing-Wen Zuo +6 more
doaj +2 more sources
Autosomal dominant Kufs disease in a Georgian adult woman: A case report [PDF]
Epilepsy & Behavior ReportsProgressive myoclonic epilepsies (PMEs) are a diverse group of neurodegenerative disorders characterized by myoclonus, seizures, and progressive cognitive and motor decline. This report presents a case of a subtype of PME, autosomal dominant Kufs disease
Nikoloz Papiashvili +4 more
doaj +2 more sources
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies [PDF]
Epilepsia OpenObjective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies.
Giulia Barcia +21 more
doaj +2 more sources
Genetic insights into progressive myoclonic epilepsies: A case study of KCTD7 mutation in an Iranian-Azeri-Turkish family [PDF]
Epilepsy & Behavior ReportsProgressive Myoclonic Epilepsies (PMEs) are a rare and heterogeneous group of epileptic disorders often with progressive neurologic deterioration. The intensity of the clinical features varies depending on the underlying genetic etiology. This study aims
Haneieh Honarmand +2 more
doaj +2 more sources
Syndromic classification of patients with typical absence seizures [PDF]
Arquivos de Neuro-Psiquiatria, 2003 The aim of this study is to compare ILAE classification (1989) and Panayiotopoulos' criteria (1997) for absence epilepsies. We studied 455 typical absences (ILAE, 1981) by video-EEG in 43 patients with normal neurological and neuroradiological ...
Laura M.F.F. Guilhoto +2 more
doaj +1 more source
Genetic epilepsy with febrile seizures plus – an overview [PDF]
Romanian Journal of Neurology, 2021 Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small ...
Madalina Radu +3 more
doaj +1 more source
Juvenile myoclonic epilepsy [PDF]
Arquivos de Neuro-Psiquiatria, 2007 Juvenile myoclonus epilepsy (JME) is a common epileptic syndrome, the etiology of which is genetically determined. Its onset occurs from 6 through 22 years of age, and affected patients present with myoclonic jerks, often associated with generalized tonic-clonic seizures - the most common association - and absence seizures.
Alfradique, Isabel +1 more
openaire +4 more sources
STX1B-related epilepsy in a 24-month-old female infant
Epilepsy & Behavior Reports, 2021 We report on a 24-month-old girl with age-appropriate development and normal intellectual ability suffering from myoclonic astatic epilepsy. Panel-based sequencing of roughly 1500 genes associated with neurodevelopmental and metabolic diseases identified
Katharina Burghardt +4 more
doaj +1 more source
Neonatal Seizures: An Overview of Genetic Causes and Treatment Options
Brain Sciences, 2021 Seizures are the most frequent neurological clinical symptoms of the central nervous system (CNS) during the neonatal period. Neonatal seizures may be ascribed to an acute event or symptomatic conditions determined by genetic, metabolic or structural ...
Giulia Spoto +7 more
doaj +1 more source
Epilepsy & Behavior Reports, 2021 Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the CYP27A1 gene. It presents with a diverse range of neurological and non-neurological symptoms. We present a case of CTX with
Karan M. Desai +6 more
doaj +1 more source