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The developmental and epileptic encephalopathies encompass a group of rare syndromes characterised by severe drug-resistant epilepsy with onset in childhood and significant neurodevelopmental comorbidities.
A. Strzelczyk, S. Schubert-Bast
semanticscholar +1 more source
The syndrome of transient epileptic amnesia [PDF]
AbstractObjectiveTransient amnesia can be the principal manifestation of epilepsy. This diagnosis, however, is seldom suspected by clinicians and remains controversial. The amnestic attacks are often associated with persistent memory complaints. This study was designed to provide the first description of transient epileptic amnesia in a substantial ...
Kim S. Graham+7 more
openaire +4 more sources
One of the most common epileptic disorders in the pediatric population is Panayiotopoulos syndrome. Clinical manifestations of this idiopathic illness include predominantly autonomic symptoms and dysfunction of the cardiorespiratory system.
Aneta Zontek, Justyna Paprocka
doaj +1 more source
A febrile epileptic status in a child: FIRES syndrome. A case report
The article describes a clinical case of severe childhood epileptic syndrome, FIRES (DESC) syndrome, which is a form of epileptic encephalopathy in school-age children caused by hyperthermia.
A. V. Shatalin+7 more
doaj +1 more source
Transition behavior of the seizure dynamics modulated by the astrocyte inositol triphosphate noise [PDF]
Epilepsy is a neurological disorder with recurrent seizures of complexity and randomness. Until now, the mechanism of epileptic randomness has not been fully elucidated. Inspired by the recent finding that astrocyte GTPase-activating protein (G-protein)-coupled receptors could be involved in stochastic epileptic seizures, we proposed a neuron-astrocyte
arxiv +1 more source
We recently reported a Q555X mutation of synapsin 1 (SYN1) on chromosome Xp11‐q21 in a family segregating partial epilepsy and autistic spectrum disorder. Herein, we provide a detailed description of the epileptic syndrome in the original family.
D. Nguyen+6 more
semanticscholar +1 more source
Background and Objectives We aimed to determine the population-based cumulative incidence and prevalence of developmental and epileptic encephalopathies (DEEs) and intellectual disability and epilepsy (ID+E) in children.
G. Poke+3 more
semanticscholar +1 more source
Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani+10 more
wiley +1 more source
MAJOR PRINCIPLES OF EPILEPSY TREATMENT. ALGORITHM OF SELECTION OF ANTIEPILEPTIC DRUGS
The authors reviewed general principles of epilepsy treatment in details as well as provided their proprietary algorithm of selection of antiepileptic drugs developed Svt. Luka's Institute of Child Neurology and Epilepsy.
K. Yu. Mukhin+4 more
doaj +1 more source
EPILEPSY ASSOCIATED WITH EPILEPTIC EYELID MYOCLONIA WITH OR WITHOUT ABSENCES
Epileptic eyelid myoclonia with or without absences – epileptic seizures presented with closing of eyes and frequent (3-6 times per second) rhythmic myoclonias of eyelids («eyelid fluttering»).
M. B. Mironov+6 more
doaj +1 more source