1 BFNC has been linked to mutations in two putative K+ cha
2 0q13.3 that co-segregates with seizures in
a BFNC family.
3 mapped to the same region of chromosome 8
as BFNC.
4 ome of benign familial neonatal
convulsions (
BFNC) exhibits the remarkable feature of clinical remiss
5 Benign familial neonatal
convulsions (
BFNC) is a rare autosomal dominant generalized epilepsy
6 Benign familial neonatal
convulsions (
BFNC), a class of idiopathic generalized epilepsy, is an
7 ype is benign familial neonatal
convulsions (
BFNC), a dominantly inherited disorder of newborns.
8 lepsy, benign familial neonatal
convulsions (
BFNC), has also been localized to chromosome 8.
9 sorder benign familial neonatal
convulsions (
BFNC), presumably by reducing IK(M) function.
10 e: the benign familial neonatal
convulsions (
BFNC; refs 2,3).
11 of 8q24, distal to the interval defined
for BFNC.
12 duced missense mutations that underlie
human BFNC into the orthologous murine Kcnq2 (Kv7.2) and Kcnq3
13 This finding
in BFNC provides additional evidence that defects in potass
14 We screened KCNQ3 for mutations in the
large BFNC family previously linked to chromosome 8q24 in the
15 Genetic heterogeneity
of BFNC has been observed.
16 gnitive profile exhibited by the majority
of BFNC patients.
17 Five
other BFNC probands were shown to have KCNQ2 mutations, includ
18 re region in perfect co-segregation with
the BFNC phenotype.
19 have been identified in human families
with BFNC, and truncation of the C terminus prevents proper K
20 howed that they are mutated in patients
with BFNC.