Condition: Episodic ataxia type 2 (disorder)
rs121908212 in
CACNA1A gene and
Episodic ataxia type 2 (disorder)
PMID 24270521 2014 Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up.
PMID 9302278 1997 Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
PMID 25274239 2014 Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1.
PMID 28169007 2017 Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.
PMID 8898206 1996 Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
PMID 21696515 2011 New mutation of CACNA1A gene in episodic ataxia type 2.
PMID 20129625 2010 Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
PMID 9488686 1998 Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.
PMID 18602318 2009 Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
PMID 14718690 2004 Clinical spectrum of episodic ataxia type 2.
PMID 19232643 2009 Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
PMID 15173248 2004 Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.
PMID 12420090 2002 Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
PMID 10987655 1999 Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.
PMID 15293273 2004 Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
PMID 10024348 1999 Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.
PMID 11723274 2001 Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
PMID 11176968 2001 Missense CACNA1A mutation causing episodic ataxia type 2.
PMID 10408533 1999 A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.
PMID 11971066 2002 Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene.
PMID 11814735 2002 Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.
PMID 11176968 2001 The Glu 1757 Lys missense mutation is likely to be pathogenic, causing episodic ataxia within a family whose phenotype is indistinguishable from EA2 except for a slightly later age of onset.
PMID 15293273 2004 We also tested the direct effect of acetazolamide on both wild-type and H1736L mutated P/Q-type channels and did not observe any direct action on channel properties of this pharmacological agent used to treat EA2 patients.
PMID 18602318 2009 We describe EA2 with unusual features in a father and daughter with a novel CACNA1A mutation coding for Y248C.
PMID 16325861 2006 Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
PMID 28742085 2017 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
PMID 15452324 2004 Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation.
PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
PMID 27066515 2016 Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
PMID 10371528 1999 High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
PMID 24420976 2014 Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2.
PMID 27250579 2016 Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
PMID 19486177 2009 CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.
PMID 23071170 2012 Clinical reasoning: a middle-aged man with episodes of gait imbalance and a newly found genetic mutation.
PMID 23038654 2012 A novel de novo pathogenic mutation in the CACNA1A gene.