Results 21 to 30 of about 6,465 (257)

Genetics of Childhood Epilepsy

open access: yesPediatric Neurology Briefs, 2000
Genetic epilepsies are classified according to the mechanism of inheritance in three major groups: 1) Mendelian idiopathic epilepsies; 2) Non-Mendelian or “complex” epilepsies; and 3) Chromosomal disorders.
J Gordon Millichap
doaj   +1 more source

Status epilepticus in patients with genetic generalized epilepsy: a case series study

open access: yesActa Epileptologica, 2023
Background Genetic generalized epilepsy (GGE) accounts for nearly one-third of all epilepsies. The feature of status epilepticus (SE) in patients with GGE has been rarely studied.
Gengyao Hu   +5 more
doaj   +1 more source

Systematic review of efficacy and safety of lamotrigine in the treatment of juvenile myoclonic epilepsy

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To evaluate the efficacy and safety of lamotrigine in the treatment of juvenile myoclonic epilepsy (JME). Methods Retrieve relevant clinical guidelines, systematic review (including Meta-analysis), randomized controlled clinical trials, case ...
Chao HUANG, Ling LIU
doaj   +1 more source

Cortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy

open access: yesFrontiers in Neurology, 2021
The developmental and epileptic encephalopathies (DEE) are the most severe group of epilepsies. Recently, NEXMIF mutations have been shown to cause a DEE in females, characterized by myoclonic–atonic epilepsy and recurrent nonconvulsive status.
Maria Cristina Cioclu   +16 more
doaj   +1 more source

The Genetic Facets of Dravet Syndrome: Recent Insights [PDF]

open access: yesAnnals of Child Neurology
Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy, is a severe epileptic syndrome affecting children, with an incidence of 1/22,000 to 1/49,900 live births annually. Characterized by resistant and prolonged seizures, it often
Hinde El Mouhi   +5 more
doaj   +1 more source

Vitamin D Status in Epileptic Children on Valproic Acid; a Case-Control Study

open access: yesArchives of Academic Emergency Medicine, 2020
Introduction: Much attention has been paid to the association between valproic acid treatment and bone health. The objective of this study is to compare the serum vitamin D3 level in the epileptic children under valproic acid treatment with the healthy ...
Ameena Taha Abdullah   +1 more
doaj   +1 more source

The Unverricht-Lundborg disease as a part of the progressive myoclonic epilepsies syndrome

open access: yesAlʹmanah Kliničeskoj Mediciny, 2022
The progressive myoclonic epilepsies syndrome (PME) is a heterogeneous group of genetic disorders characterized by myoclonus, progressive motor and cognitive abnormalities, sensory and cerebellar symptoms, abnormal slowing of the basic bioelectrical ...
Elena D. Belousova
doaj   +1 more source

EPILEPSY IN INBORN ERRORS OF METABOLISM

open access: yesЭпилепсия и пароксизмальные состояния, 2016
Epilepsy is a frequent and sometimes leading symptom in inborn errors of metabolism, especially in neonatal or infantile ones. Early myoclonic encephalopathy and myoclonus as a seizure type are the prototypes of epilepsy in inherited metabolic diseases ...
E. D. Belousova
doaj   +1 more source

Inherited Epilepsies

open access: yesBezmiâlem Science, 2020
Mutations in genes encoding the formation of ion channels may cause epileptic syndromes. These epileptic syndromes are generally divided into generalized and partial epilepsies.
Halil Aziz VELİOĞLU   +1 more
doaj   +1 more source

Research on the Direction of Ion Channel Related to Epileptic Seizures [PDF]

open access: yesE3S Web of Conferences, 2020
Epilepsy is a group of chronic brain diseases characterized by transient central nervous system dysfunction caused by repeated abnormal synchronization of neuronal discharges in the brain, with sudden onset and repeated seizures. Epilepsy has been listed
Yin Jianing
doaj   +1 more source

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