EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.
|
28169007 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
|
27066515 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
|
27250579 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
|
27250579 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2.
|
24420976 |
2014 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up.
|
24270521 |
2014 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1.
|
25274239 |
2014 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel de novo pathogenic mutation in the CACNA1A gene.
|
23038654 |
2012 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical reasoning: a middle-aged man with episodes of gait imbalance and a newly found genetic mutation.
|
23071170 |
2012 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.
|
19486177 |
2009 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene.
|
11971066 |
2002 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.
|
11814735 |
2002 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
|
10371528 |
1999 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.
|
10024348 |
1999 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.
|
9488686 |
1998 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |