Associated Papers
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
Pham DH et al.
Human Mutation, 2021
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
Millichap JJ et al.
Epilepsia, 2017
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