|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
|
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 |
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
|
26814174 |
2016 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
|
26814174 |
2016 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
|
25758715 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
|
Dysmorphic features
|
|
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 |
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
|
25758715 |
2015 |
|
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 |
Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.
|
23831250 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The International Classification of Headache Disorders, 3rd edition (beta version).
|
23771276 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
The International Classification of Headache Disorders, 3rd edition (beta version).
|
23771276 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.
|
23831250 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
Dysmorphic features
|
|
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 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
|
22249839 |
2012 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
|
21183743 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
|
21183743 |
2011 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
|
20156848 |
2010 |
|
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 |
Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.
|
19811514 |
2010 |