Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3

scientific article

Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3 is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.PEDIATRNEUROL.2007.06.016
P932PMC publication ID2151385
P698PubMed publication ID18021921
P5875ResearchGate publication ID5825056

P2093author name stringJ Jay Gargus
Anne Tournay
P2860cites workMutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2Q22253421
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2Q24293004
Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2Q24531852
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsionsQ28204791
Sodium channels SCN1A, SCN2A and SCN3A in familial autismQ28212831
Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channelQ28241997
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraineQ28264653
Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2Q28276923
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signsQ28285675
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4Q28295213
Unraveling monogenic channelopathies and their implications for complex polygenic diseaseQ33905030
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channelQ34091858
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancyQ34122789
Ion channel functional candidate genes in multigenic neuropsychiatric diseaseQ36404520
Gene dosage-dependent transmitter release changes at neuromuscular synapses of CACNA1A R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weaknessQ46659991
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancyQ47756691
Use of the ICHD-II criteria in the diagnosis of pediatric migraine.Q53263413
[ATP1A2: a key player in familial hemiplegic migraine]Q83100409
P433issue6
P921main subjectmigraineQ133823
familial hemiplegic migraineQ3312899
seizureQ6279182
P304page(s)407-410
P577publication date2007-12-01
P1433published inPediatric NeurologyQ15752159
P1476titleNovel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3
P478volume37

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cites work (P2860)
Q46450231A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report
Q26864726Channelopathy pathogenesis in autism spectrum disorders
Q38080592Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine
Q35962539Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes
Q83276684Familial hemiplegic migraine
Q27023504Familial hemiplegic migraine and spreading depression
Q57949541Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley
Q83203693Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred
Q33812736Headache-type adverse effects of NO donors: vasodilation and beyond
Q37883448Migraine genes and the relation to gender
Q39077188Migraine genetics: current findings and future lines of research
Q37960093Na+ channelopathies and epilepsy: recent advances and new perspectives.
Q38728979Pharmacology of the Nav1.1 domain IV voltage sensor reveals coupling between inactivation gating processes
Q44389739SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache
Q28594552Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain
Q39960558Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel
Q37681340Sodium channelopathies and pain
Q58051688Testing Genes Implicated in the Novel Case of Familial Hemiplegic Migraine
Q47584335Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L.
Q37714086Voltage-gated sodium channels as therapeutic targets in epilepsy and other neurological disorders.