Key result
KCNQ2 and KCNQ3 mutations reduce current densities and impair channel regulation in familial neonatal epilepsy.
Population
17 patients/families with electroclinical presentation consistent with benign familial neonatal epilepsy…
Design
Case_series
Authors
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May inform genetic diagnosis in benign familial neonatal epilepsy; leaves open clinical relevance of syntaxin-1A impairment.
Observational (n=17)
Identifies novel KCNQ2/3 mutations in benign familial neonatal epilepsy and provides first evidence that some mutations impair channel regulation by syntaxin-1A.
Soldovieri et al. (2013) conducted an observational in Benign familial neonatal epilepsy (BFNE) (n=17). KCNQ2 and KCNQ3 mutations was evaluated on Genetic mutations and electrophysiological channel function. Sixteen different heterozygous mutations in KCNQ2 and one in KCNQ3 were identified in 17 families with benign familial neonatal epilepsy, which reduced current densities and impaired channel regulation by syntaxin-1A.
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