|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
|
20129625 |
2010 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
CaV2.1 channelopathies.
|
20204399 |
2010 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
|
20682717 |
2010 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.
|
19484318 |
2009 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
|
20097664 |
2010 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The International Classification of Headache Disorders, 3rd edition (beta version).
|
23771276 |
2013 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
|
26814174 |
2016 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.
|
23831250 |
2013 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.
|
20233618 |
2010 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
|
9005860 |
1997 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The genetic spectrum of a population-based sample of familial hemiplegic migraine.
|
17142831 |
2007 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
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 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Magnetic resonance imaging in familial paroxysmal ataxia.
|
3358708 |
1988 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Migraine: gene mutations and functional consequences.
|
17495624 |
2007 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
|
18498393 |
2008 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
|
21183743 |
2011 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
|
15483044 |
2004 |
|
rs1057520918
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.
|
15300451 |
2004 |