Abstract/Journal Article

DZNE-2020-00920

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png 0047: ELECTRO-CLINICAL FEATURES OF A NEW CHANNELOPATHY DUE TO LOSS OF FUNCTION OR GAIN OF FUNCTION MUTATIONS IN KCNA2

Synofzik, M.DZNE*

2016

Abstract: Purpose: De novo loss of function (LOF) and gain of function (GOF)mutations in KCNA2 encoding the potassium channel KV1.2 haverecently been associated with epileptic encephalopathies. Our study aimsto describe the clinical and EEG features of patients with encephalopathycaused by KCNA2 mutations.

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser 1)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2016

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection

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