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, C.G.F., Brilstra, E.H., van Kempen, M.J.A., Van't Slot, R., Nijman, I.J., Afawi, Z., De Jonghe, P., Djémié, T., Guerrini, R., Hardies, K., Helbig, I., Hendrickx, R., Kanaan, M., Kramer, U., Lehesjoki, A.E., Lemke, J.R., Marini, C., Mei, D., Møller, R.S., Pendziwiat, M., et al.. - 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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