Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME. (Q42655007)

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9 November 2019

title

Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME (English)

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9 November 2019

8

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9 November 2019

author name string

T Moore

1

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9 November 2019

S Hecquet

2

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9 November 2019

A McLellann

3

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9 November 2019

D Ville

4

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9 November 2019

D Grid

5

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9 November 2019

F Picard

6

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9 November 2019

B Moulard

7

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9 November 2019

A J Makoff

9

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9 November 2019

D McCormick

10

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9 November 2019

L Nashef

11

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P Froguel

12

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9 November 2019

A Arzimanoglou

13

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9 November 2019

E LeGuern

14

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B Bailleul

15

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9 November 2019

publication date

1 August 2001

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9 November 2019

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9 November 2019

volume

46

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9 November 2019

issue

2

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page(s)

157-167

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Causes of epilepsy: contributions of the Rochester epidemiology project.

9 November 2019

cites work

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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

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O-GlcNAc and the control of gene expression

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Sensitivity to jerky gene dosage underlies epileptic seizures in mice

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Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.

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Influence of the amino acid sequence on the MUC5AC motif peptide O-glycosylation by human gastric UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase(s)

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Diamondoids and oil are not forever

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7 January 2021

JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24.

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7 January 2021

Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24.

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7 January 2021

Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain

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Clonazepam in juvenile myoclonic epilepsy

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Absences in juvenile myoclonic epilepsy: a clinical and video-electroencephalographic study

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Dominant partial epilepsies: A clinical, electrophysiological and genetic study of 19 European families

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7 January 2021

Seizure disorders in mutant mice: relevance to human epilepsies

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7 January 2021

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

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7 January 2021

Epileptic seizures caused by inactivation of a novel gene, jerky, related to centromere binding protein-B in transgenic mice

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7 January 2021

Mapping of genes predisposing to idiopathic generalized epilepsy

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7 January 2021

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Identifiers

DOI

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9 November 2019

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