A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years
about
Contribution of SHANK3 mutations to autism spectrum disorderExpression and localization of K channels KCNQ2 and KCNQ3 in the mammalian cochleaGenetic regulation of gene expression in the epileptic human hippocampus.A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's diseaseRole of genetics in the diagnosis and treatment of epilepsy.Channelopathies in idiopathic epilepsy.Genetics of epilepsies.KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype.Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.
P2860
Q24648672-040EE9CC-8AC8-4F8F-9F1C-1CF483383520Q30498039-B0B99F7C-F8C8-4696-BA1A-7A7466EE46EEQ33622547-A22D9BDD-1C5B-4676-BB05-F134EB6D2D5CQ34277615-331F3F6C-1020-4480-9B0B-96530F89FC38Q34575715-ADD25768-3D9E-49B2-A414-CE4B5226695BQ35794427-DBB9732D-C6F3-4EA8-9E50-2FE5B7374332Q36688976-936E1E43-9E17-465D-AEF1-C235D9D3A7C1Q36774738-BC5913E6-6C3C-4716-A933-B1402D03F192Q36847273-74EFF69E-9526-48DB-BB93-9DD41669F9E5Q52777316-D440AC2E-9F3C-4FF2-ADB9-D04FB798E6A4Q54541373-B2A84ABC-08ED-420E-B2B9-0D8C17DF4140
P2860
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years
description
2006 nî lūn-bûn
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2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
A novel splicing mutation in K ...... ith BFNC followed for 25 years
@ast
A novel splicing mutation in K ...... ith BFNC followed for 25 years
@en
A novel splicing mutation in K ...... ith BFNC followed for 25 years
@nl
type
label
A novel splicing mutation in K ...... ith BFNC followed for 25 years
@ast
A novel splicing mutation in K ...... ith BFNC followed for 25 years
@en
A novel splicing mutation in K ...... ith BFNC followed for 25 years
@nl
prefLabel
A novel splicing mutation in K ...... ith BFNC followed for 25 years
@ast
A novel splicing mutation in K ...... ith BFNC followed for 25 years
@en
A novel splicing mutation in K ...... ith BFNC followed for 25 years
@nl
P2093
P2860
P50
P1433
P1476
A novel splicing mutation in K ...... ith BFNC followed for 25 years
@en
P2093
Adri Bader
Bobby P C Koeleman
Dicky Halley
Dietbrandt Carton
Edith Peters
Eduard Boezeman
Gerard van Erp
Jorien Witte
Martin C Wapenaar
Willem Vandereyken
P2860
P356
10.1111/J.1528-1167.2006.00552.X
P407
P577
2006-05-01T00:00:00Z