rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
|
16595610 |
2006 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.
|
19811514 |
2010 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
|
20682717 |
2010 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
The International Classification of Headache Disorders, 3rd edition (beta version).
|
23771276 |
2013 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
The genetic spectrum of a population-based sample of familial hemiplegic migraine.
|
17142831 |
2007 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
|
9403487 |
1997 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
CaV2.1 channelopathies.
|
20204399 |
2010 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Magnetic resonance imaging in familial paroxysmal ataxia.
|
3358708 |
1988 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
|
20156848 |
2010 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
|
9005860 |
1997 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
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 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
|
20097664 |
2010 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Stepwise developmental regression associated with novel CACNA1A mutation.
|
18940563 |
2008 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Migraine: gene mutations and functional consequences.
|
17495624 |
2007 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
|
9436730 |
1998 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
|
21183743 |
2011 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Large CACNA1A deletion in a family with episodic ataxia type 2.
|
18541804 |
2008 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
|
26814174 |
2016 |
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.
|
20233618 |
2010 |