|
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 |
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 |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
CaV2.1 channelopathies.
|
20204399 |
2010 |
|
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 |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
|
18498393 |
2008 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
|
22249839 |
2012 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Familial paroxysmal ataxia: report of a family.
|
1564484 |
1992 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
|
8988170 |
1997 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.
|
23441182 |
2013 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.
|
9879686 |
1998 |
|
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 |
The International Classification of Headache Disorders, 3rd edition (beta version).
|
23771276 |
2013 |
|
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 |
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.
|
12707077 |
2003 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.
|
23831250 |
2013 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.
|
19484318 |
2009 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.
|
20233618 |
2010 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
|
11564488 |
2001 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
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 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.
|
9559993 |
1998 |
|
rs1555756091
|
|
Dysmorphic features
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |