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Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions.


ABSTRACT: 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

SUBMITTER: Al Yazidi G 

PROVIDER: S-EPMC5417349 | biostudies-literature | 2017 Jan-Dec

REPOSITORIES: biostudies-literature

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Two Novel <i>KCNQ2</i> Mutations in 2 Families With Benign Familial Neonatal Convulsions.

Al Yazidi Ghalia G   Shevell Michael I MI   Srour Myriam M  

Child neurology open 20170101


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 <i>KCNQ2</i>, which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in <i>KCNQ2</i> are also associated with a severe neonatal encep  ...[more]

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