about
The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyVARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotypeFurther corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypesClinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyMultimodal Analysis of Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome
P921
description
scientific article published on 31 December 2012
@en
wetenschappelijk artikel
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наукова стаття, опублікована у 2012
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name
Epileptic encephalopathy
@en
Epileptic encephalopathy
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type
label
Epileptic encephalopathy
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Epileptic encephalopathy
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prefLabel
Epileptic encephalopathy
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Epileptic encephalopathy
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P356
P1476
Epileptic encephalopathy
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P2093
Colin Ferrie
Rod C Scott
P304
P356
10.1155/2012/460256
P407
P577
2012-12-31T00:00:00Z