Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
rs121908212 in
CACNA1A gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
PMID 25274239 2014 Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1.
PMID 11971066 2002 Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene.
PMID 28169007 2017 Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.
PMID 11814735 2002 Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.
PMID 8898206 1996 Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
PMID 10024348 1999 Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.
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 9488686 1998 Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.
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 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 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
PMID 27250579 2016 Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
PMID 24420976 2014 Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2.
PMID 19486177 2009 CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.
PMID 23038654 2012 A novel de novo pathogenic mutation in the CACNA1A gene.
PMID 23071170 2012 Clinical reasoning: a middle-aged man with episodes of gait imbalance and a newly found genetic mutation.
PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.