The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.

Sophie von Brauchitsch,Denise Haslinger,Silvia Lindlar,Holger Thiele, Natalie Bernsen,Felix Zahnert,Philipp S Reif,Yunus Balcik,Ping Yee Billie Au,Colin B Josephson,Janine Altmüller,Adam Strzelczyk,Susanne Knake,Felix Rosenow,Andreas Chiocchetti,Karl Martin Klein

Epilepsia open（2023）

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摘要

Our data indicates that adult patients with epilepsy and ID represent a heterogeneous cohort that includes grown-up patients with DEE but also patients with primary ID and later onset of epilepsy. To maximize diagnostic yield in this cohort either large gene panels or exome sequencing should be used.

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关键词

adults,developmental and epileptic encephalopathy,epilepsy,genetic testing,genetics,intellectual disability,phenotype

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