Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
|
16595610 |
2006 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
|
20097664 |
2010 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.
|
9559993 |
1998 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Magnetic resonance imaging in familial paroxysmal ataxia.
|
3358708 |
1988 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
|
26814174 |
2016 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.
|
9879686 |
1998 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Stepwise developmental regression associated with novel CACNA1A mutation.
|
18940563 |
2008 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
CaV2.1 channelopathies.
|
20204399 |
2010 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
|
11179022 |
2001 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
|
22249839 |
2012 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
|
9436730 |
1998 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
|
8988170 |
1997 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.
|
23831250 |
2013 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
|
9302278 |
1997 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.
|
20233618 |
2010 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
|
18498393 |
2008 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
|
9005860 |
1997 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
|
20156848 |
2010 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
|
15483044 |
2004 |