Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
|
20129625 |
2010 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
|
9403487 |
1997 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.
|
20233618 |
2010 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
|
15483044 |
2004 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
|
18498393 |
2008 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.
|
23441182 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
|
9436730 |
1998 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
|
21183743 |
2011 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
|
26814174 |
2016 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
|
25758715 |
2015 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Stepwise developmental regression associated with novel CACNA1A mutation.
|
18940563 |
2008 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
Dysmorphic features
|
0.100 |
CausalMutation
|
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 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
|
20156848 |
2010 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Familial paroxysmal ataxia: report of a family.
|
1564484 |
1992 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Migraine: gene mutations and functional consequences.
|
17495624 |
2007 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
|
22249839 |
2012 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |