Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine (Q28264653)

9

Arn M J M van den Maagdenberg

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Bettina Lorenz-Depiereux

5

Bettina Lorenz-Depiereux

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Michael Pusch

Michael Pusch

10

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Michel Ferrari

7

Michel D Ferrari

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author name string

Tobias Freilinger

2

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Gertrud Eckstein

3

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Elena Babini

4

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Bettina Lorenz-Depiereux

5

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Saskia Biskup

6

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Jürgen Herzog

8

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Tim M Strom

The prevalence and characteristics of migraine in a population-based cohort: the GEM study

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366

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371-7

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9483

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Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

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The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

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Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

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Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity

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Molecular mechanism for an inherited cardiac arrhythmia

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Mechanisms of sodium channel inactivation

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Diversity of mammalian voltage-gated sodium channels.

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Structural parts involved in activation and inactivation of the sodium channel

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A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation

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Amino acid residues required for fast Na(+)-channel inactivation: charge neutralizations and deletions in the III-IV linker

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7 January 2021

Distribution of voltage-gated sodium channel ?-subunit and ?-subunit mRNAs in human hippocampal formation, cortex, and cerebellum

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7 January 2021

Deciphering migraine mechanisms: clues from familial hemiplegic migraine genotypes

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A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression

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Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2

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7 January 2021

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

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De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

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Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

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Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels

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Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

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Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

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Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

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7 January 2021

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction

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7 January 2021

Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation

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7 January 2021

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

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7 January 2021

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

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Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

640145

640145

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference