Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of...
Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kᵥ7.2 potassium channel subunits
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Publisher
Washington, DC: National Academy of Sciences
Journal title
Language
English
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Publisher
Washington, DC: National Academy of Sciences
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Scope and Contents
Contents
Mutations in the K V7.2 gene encoding for voltage-dependent K ⁺ channel subunits cause neonatal epilepsies with wide phenotypic heterogeneity. Two mutations affecting the same positively charged residue in the S ₄ domain of K V7.2 have been found in children affected with benign familial neonatal seizures (R213W mutation) or with neonatal epileptic...
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Full title
Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kᵥ7.2 potassium channel subunits
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TN_cdi_proquest_miscellaneous_1803104030
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1803104030
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1216867110
