|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.
|
23441182 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
|
22249839 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
|
Muscle hypotonia
|
|
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 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.
|
20233618 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.
|
23831250 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.
|
9559993 |
1998 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The International Classification of Headache Disorders, 3rd edition (beta version).
|
23771276 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
|
Muscle hypotonia
|
|
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 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Magnetic resonance imaging in familial paroxysmal ataxia.
|
3358708 |
1988 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
|
9436730 |
1998 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Migraine: gene mutations and functional consequences.
|
17495624 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Stepwise developmental regression associated with novel CACNA1A mutation.
|
18940563 |
2008 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.
|
19811514 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
|
18498393 |
2008 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
CaV2.1 channelopathies.
|
20204399 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
|
8988170 |
1997 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
|
21183743 |
2011 |