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
- Dj\ue9mi\ue9, Tania
- Guerrini, Renzo
- Hardies, Katia
- Helbig, Ingo
- Hendrickx, Rik
- Kanaan, Moine
- Kramer, Uri
- Lehesjoki, Anna-Elina E
- Lemke, Johannes R
- Marini, Carla
- Mei, Davide
- M\uf8ller, Rikke S
- Pendziwiat, Manuela
- Stamberger, Hannah
- Suls, Arvid
- Weckhuysen, S
- Balling, R
- Barisic, N
- Baulac, S
- Caglayan, Hs
- Craiu, Dc
- Depienne, C
- Gormley, P
- Hjalgrim, H
- Hoffman-Zacharska, D
- J\ue4hn, J
- Klein, Km
- Komarek, V
- LeGuern, E
- Lerche, H
- May, P
- Muhle, H
- Pal, D
- Palotie, A
- Rosenow, F
- Selmer, K
- Serratosa, Jm
- Sisodiya, Sm
- Stephani, U
- Sterbova, K
- Striano, P
- Talvik, T
- van Haelst, M
- Verbeek, N
- von Spiczak, S
- Weber, Yg
- Koeleman, Bpc.
Publication date
January 2016
DOI Publisher
Wiley ISSN
2324-9269 Language
English Citation count (estimate)
20Abstract
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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