Key result
Two families with benign familial neonatal convulsions carried previously unreported heterozygous missense mutations in KCNQ2 (c.1066C>G and c.1721G).
Case Report (n=2)
Identifies two novel KCNQ2 mutations associated with benign familial neonatal convulsions, expanding the known genetic spectrum of the disease.
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Broadens KCNQ2 mutational spectrum in benign familial neonatal convulsions; extends genetic associations but remains hypothesis-generating.
Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in KCNQ2, which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in KCNQ2 are also associated with a severe neonatal encephalopathy phenotype associated with poor seizure control and neurodevelopmental deficits. The authors report the clinical presentations, response to medication, and intrafamilial phenotypic variability in 2 families with benign familial neonatal convulsions, carrying previously unreported heterozygous missense mutations, c.1066C>G (p.Leu356Val) and c.1721G
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Yazidi et al. (2017) conducted a case report in Benign familial neonatal convulsions (n=2). KCNQ2 mutations (c.1066C>G and c.1721G) was evaluated on Clinical presentations, response to medication, and intrafamilial phenotypic variability. Two families with benign familial neonatal convulsions carried previously unreported heterozygous missense mutations in KCNQ2 (c.1066C>G and c.1721G).
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