Results 11 to 20 of about 118,836 (248)
KCNA2-Related Epileptic Encephalopathy
Pediatric Neurology Briefs, 2015 Investigators from the University Leipzig and University of Tübingen report mutations of KCNA2 as a novel cause of epileptic encephalopathy.
Jennifer A Kearney
doaj +2 more sources
Astrocyte reactivity in a mouse model of SCN8A epileptic encephalopathy
Epilepsia Open, 2022 Objective SCN8A epileptic encephalopathy is caused predominantly by de novo gain‐of‐function mutations in the voltage‐gated sodium channel Nav1.6. The disorder is characterized by early onset of seizures and developmental delay.
Jeremy A. Thompson +6 more
doaj +2 more sources
Fever-Induced Epileptic Encephalopathy (FIRES)
Pediatric Neurology Briefs, 2011 Clinical and imaging characteristics of fever-induced refractory epileptic encephalopathy (FIRES), idiopathic hemiconvulsion-hemiplegia syndrome (IHHS), and related acute encephalopathies are reviewed by researchers at Descartes University, Paris, France;
J Gordon Millichap
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Infantile Epileptic Encephalopathy of Ohtahara
Pediatric Neurology Briefs, 1998 A case of infantile epileptic encephalopathy (Ohtahara syndrome) with EEG suppression-bursts at 2 days and associated with diffuse cerebral migrational and maturation disorder, diagnosed at autopsy at 19 months, is reported from Montreal Children’s ...
J Gordon Millichap
doaj +2 more sources
De novo NSF mutations cause early infantile epileptic encephalopathy [PDF]
Annals of Clinical and Translational Neurology, 2019 N‐ethylmaleimide‐sensitive factor (NSF) plays a critical role in intracellular vesicle transport, which is essential for neurotransmitter release. Herein, we, for the first time, document human monogenic disease phenotype of de novo pathogenic variants ...
Hisato Suzuki +8 more
doaj +3 more sources
Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype
Epilepsy & Behavior ReportsKBG syndrome is characterised by developmental delay, dental (macrodontia of upper central incisors), craniofacial and skeletal anomalies. Since the identification of variants in the gene (ANKRD11) responsible for KBG syndrome, wider phenotypes are ...
Eoin P. Donnellan +3 more
doaj +2 more sources
Archives of Epilepsy, 2016 Some of childhood epileptic syndromes reminds immunological etiologies with their good response to immuno-therapy and histopathological findings. These syndromes, such as Rasmussen encephalitis, FIRES, West syndrome, and Landau-Kleffner syndrome each of ...
Demet KINAY, Pınar TEKTÜRK
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Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. [PDF]
, 2022 We report on an 8-year-old girl with severe developmental and epileptic encephalopathy due to the compound heterozygous null variants p.(Gln661*) and p.(Leu830Profs*2) in GRIN2A resulting in a knockout of the human GluN2A subunit of the N-methyl-D ...
Gallati, Sabrina +19 more
core +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]
, 2013 Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Tommaso Pippucci (497773) +46 more
core +1 more source