The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
Sophie von BrauchitschDenise HaslingerSilvia LindlarHolger ThieleNatalie BernsenFelix ZahnertPhilipp S ReifYunus BalcikPing Yee Billie AuColin Bruce JosephsonJanine AltmüllerAdam StrzelczykSusanne KnakeFelix RosenowAndreas ChiocchettiKarl Martin KleinPublished in: Epilepsia open (2023)
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.