Article
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
American journal of medical genetics. Part A - 1 Jun 2021
Mary Laura, Nourisson Elsa, Feger Claire, Laugel Vincent, Chaigne Denys, Keren Boris, Afenjar Alexandra, Billette Thierry, Trost Detlef, Cieuta-Walti Cécile, Gerard Bénédicte, Piton Amélie, Schaefer Elise
Abstract excerpt
High-throughput sequencing (HTS) improved the molecular diagnosis in individuals with intellectual deficiency (ID) and helped to broaden the phenotype of previously known disease-causing genes. We report herein four unrelated patients with isolated ID, carriers of a likely pathogenic variant in KCNQ2, a gene usually implicated in benign familial neonatal seizures (BFNS) or early onset epileptic encephalopathy...
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