Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation.
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients / de Kovel, Carolien G F; Brilstra, Eva H; van Kempen, Marjan J A; Van't Slot, Ruben; Nijman, Isaac J; Afawi, Zaid; De Jonghe, Peter; Djémié, Tania; Guerrini, Renzo; Hardies, Katia; Helbig, Ingo; Hendrickx, Rik; Kanaan, Moine; Kramer, Uri; Lehesjoki, Anna-Elina E; Lemke, Johannes R; Marini, Carla; Mei, Davide; Møller, Rikke S; Pendziwiat, Manuela; Stamberger, Hannah; Suls, Arvid; Weckhuysen, Sarah; Koeleman, Bobby P C. - In: MOLECULAR GENETICS & GENOMIC MEDICINE. - ISSN 2324-9269. - ELETTRONICO. - 4:(2016), pp. 568-580. [10.1002/mgg3.235]
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
Guerrini, Renzo;Marini, CarlaData Curation
;Mei, Davide;
2016
Abstract
Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation.
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