De novo KCNQ2 mutations in patients with benign neonatal seizures.
Benign familial neonatal convulsions (BFNC) are characterized by unprovoked seizures during the first weeks of life with spontaneous remission after a few months. Mutations have been identified in the voltage-gated potassium ion channels KCNQ2 and KCNQ3. The authors performed a mutation analysis of KCNQ2 and KCNQ3 in six patients of whom four had no family history of neonatal seizures. The authors identified three KCNQ2 mutations in four patients that all arose de novo.
Claes
L R F
LR
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp, Antwerpen, Belgium.
Ceulemans
B
B
Audenaert
D
D
Deprez
L
L
Jansen
A
A
Hasaerts
D
D
Weckx
S
S
Claeys
K G
KG
Del-Favero
J
J
Van Broeckhoven
C
C
De Jonghe
P
P
D000328:Adult; D004252:DNA Mutational Analysis; D020936:Epilepsy, Benign Neonatal / Q000145:classification / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D051658:KCNQ2 Potassium Channel; D051659:KCNQ3 Potassium Channel; D008297:Male; D010375:Pedigree; D024642:Potassium Channels, Voltage-Gated / Q000172:deficiency / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D017384:Sequence Deletion
D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D051659:KCNQ3 Potassium Channel; C496916:KCNQ3 protein, human; D024642:Potassium Channels, Voltage-Gated; D022821:RNA Splice Sites