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Article

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2019

Heyne Henrike O, Artomov Mykyta, Battke Florian, Bianchini Claudia, Smith Douglas R, Liebmann Nora, Tadigotla Vasisht, Stanley Christine M, Lal Dennis, Rehm Heidi, Lerche Holger, Daly Mark J, Helbig Ingo, Biskup Saskia, Weber Yvonne G, Lemke Johannes R

Abstract excerpt

PURPOSE: We aimed to gain insight into frequencies of genetic variants in genes implicated in neurodevelopmental disorder with epilepsy (NDD+E) by investigating large cohorts of patients in a diagnostic setting. METHODS: We analyzed variants in NDD+E using epilepsy gene panel sequencing performed between 2013 and 2017 by two large diagnostic companies. We compared variant frequencies in 6994 panels with another...

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Identifiers

PMID: 31056551
DOI: 10.1038/s41436-019-0531-0

Genes

CACNB4
CDKL5
CLCN2
EFHC1
GABRD
KCNQ2
MAGI2
SCN1A
SCN2A
SCN8A
STXBP1

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