KCNA2-Related Epileptic Encephalopathy
نویسندگان
چکیده
منابع مشابه
KCNA2-Related Epileptic Encephalopathy
Investigators from the University Leipzig and University of Tübingen report mutations of KCNA2 as a novel cause of epileptic encephalopathy.
متن کاملMaintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy.
1. Epi4K Consortium; Epilepsy Phenome/Genome Project; Allen AS et al. De novo mutations in epileptic encephalopathies. Nature 2013: 501 (7466): 217–221. 2. OrhanG, BockM, Schepers D et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. AnnNeurol 2014: 75 (3): 382–394. 3. Pena SD, Coimbra RL. Ataxia and myoclonic epilepsy due to a heterozygous new muta...
متن کاملEpileptic Encephalopathy
Epileptic encephalopathies are conditions in which epileptic activity itself is postulated to contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. The term has been used in two ways: (1) as a generic classification term for epilepsies with severe cognitive and be-havioural outcomes and (2) as a pathophysiological...
متن کاملThe hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
AIM Forkhead Box G1 (FOXG1) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial dysmorphisms, severe delay with absent language, defective social interactions, and epilepsy. Abnormal movements in FOXG1 syndrome have often been mentioned but not characterized. METHOD We clinically assessed and analysed video recordings of e...
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Voltage-gated sodium channels (Navs) are mainstays of neuronal function, and mutations in the genes encoding CNS Navs (Nav1.1 [SCN1A], Nav1.2 [SCN2A], Nav1.3 [SCN3A], and Nav1.6 [SCN8A]) are causes of some of the most common and severe genetic epilepsies and epileptic encephalopathies (EE).1 Fibroblast-growth-factor homologous factors (FHFs) compose a family of 4 proteins that interact with the...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2015
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-29-4-2