Publications:

Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

Epilepsia

Millichap, John J JJ; Miceli, Francesco F; De Maria, Michela M; Keator, Cynthia C; Joshi, Nishtha N; Tran, Baouyen B; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; Shashi, Vandana V; Mikati, Mohamad A MA; Cooper, Edward C EC; Taglialatela, Maurizio M

Publication Date: 2017-01

Variant appearance in text: TSC2: 599+3A>G

PubMed Link: 27861786

Variant Present in the following documents:

• Main text

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