A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
about
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channelA novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 yearsComplete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypesExpression and localization of K channels KCNQ2 and KCNQ3 in the mammalian cochleaGenes and mutations in idiopathic epilepsy.Channelopathies can cause epilepsy in man.The neuronal channelopathies.Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's diseaseGenetics of idiopathic epilepsies.Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).Episodic ataxia type 1: a neuronal potassium channelopathy.Molecular genetics of human familial epilepsy syndromes.Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.
P2860
Q24555140-085795B1-D582-4B02-A40F-8F41E6181C3DQ28239316-A0A0C8B6-D426-4B0B-ADA1-49B33F6E5FBBQ28251258-49BD300B-C53D-4A9F-AE12-D2ECF60E8791Q30498039-D347FD58-218D-427D-A458-94BAD9754E26Q34386799-34C5926D-BAC0-4967-A84A-E61F1DE7139AQ34558526-5C717A65-B2C8-4548-A9B0-5D4B108BC486Q34649239-1D06391F-66CC-4D14-893B-FC3DFFCDA18FQ35794427-E5C01E0F-FA8F-465B-8F13-915FFD461DB8Q36091806-E1F8132E-5560-4F89-8106-45713B9F4F9DQ36344246-5D6F0C25-8550-41C9-828B-EAC7726C15E1Q36774725-3AF62DD9-558C-4C95-9987-5C8EA1750351Q44182076-75E6BC54-5284-467A-857E-06DB33E3D645Q45193972-9D162D90-81B1-4155-B077-A3196C75C3A2Q51963281-D2A31383-9915-4064-9605-F9A0C405B239
P2860
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
description
2000 nî lūn-bûn
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2000 թուականի Փետրուարին հրատարակուած գիտական յօդուած
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2000 թվականի փետրվարին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
@ast
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
@en
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
@nl
type
label
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
@ast
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
@en
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
@nl
prefLabel
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
@ast
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
@en
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
@nl
P2093
P356
P1433
P1476
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
@en
P2093
P356
10.1055/S-2000-15290
P407
P577
2000-02-01T00:00:00Z