A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns (Q24319094)

GOA release 2020-03-11

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C Charlier

2

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author name string

N A Singh

1

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D Stauffer

3

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B R DuPont

4

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R J Leach

5

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R Melis

6

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G M Ronen

7

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I Bjerre

8

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T Quattlebaum

9

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J V Murphy

10

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M L McHarg

11

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D Gagnon

12

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T O Rosales

13

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A Peiffer

14

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V E Anderson

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M Leppert

Seizure characteristics in chromosome 20 benign familial neonatal convulsions

16

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language of work or name

English

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publication date

January 1998

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published in

Nature Genetics

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volume

18

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issue

1

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page(s)

25-9

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cites work

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Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

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Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity

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Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

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D20S19, linked to low voltage EEG, benign neonatal convulsions, and Fanconi anaemia, maps to a region of enhanced recombination and is localized between CpG islands

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Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q

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Searching for human epilepsy genes: a progress report.

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Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

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Basic local alignment search tool

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A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

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At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells

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Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles

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Eight potassium channel families revealed by the C. elegans genome project

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Neurotransmission in epilepsy.

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Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel

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A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation

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Normal cerebellar development but susceptibility to seizures in mice lacking G protein-coupled, inwardly rectifying K+ channel GIRK2

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KVLQT1 mutations in three families with familial or sporadic long QT syndrome

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KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias

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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

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Cloned potassium channels from eukaryotes and prokaryotes

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Evidence that the S6 segment of the Shaker voltage-gated K+ channel comprises part of the pore

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Mutations in the P-region of a mammalian potassium channel (RCK1): a comparison with the Shaker potassium channel

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Determination of key structural requirements of a K+ channel pore

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Mutations in the K+ channel signature sequence

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Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q

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