|
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 |
|
Dysmorphic features
|
|
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 |
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
|
11564488 |
2001 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
|
11564488 |
2001 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
|
11723274 |
2001 |
|
Muscle hypotonia
|
|
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 |
|
Dysmorphic features
|
|
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 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical spectrum of episodic ataxia type 2.
|
14718690 |
2004 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.
|
15300451 |
2004 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.
|
15300451 |
2004 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
|
15483044 |
2004 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
|
15483044 |
2004 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
|
16043807 |
2005 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
|
16595610 |
2006 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
|
16595610 |
2006 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
The genetic spectrum of a population-based sample of familial hemiplegic migraine.
|
17142831 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The genetic spectrum of a population-based sample of familial hemiplegic migraine.
|
17142831 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Migraine: gene mutations and functional consequences.
|
17495624 |
2007 |