|
Hemiplegic migraine
|
0.100 |
Biomarker
|
disease |
BEFREE |
This is the first reported case of ocular dipping in an encephalopathic child with CACNA1A-confirmed hemiplegic migraine.[J Pediatr Ophthalmol Strabismus.2018;55:e4-e6.].
|
29384561 |
2018 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patient We report a 16-year clinical and neuroradiological follow-up of a patient carrying a de novo p.Ser218Leu CACNA1A HM mutation who had nine severe HM attacks associated with seizures and decreased consciousness between the ages of 3 and 12 years.
|
28750589 |
2018 |
|
Hemiplegic migraine
|
0.100 |
Biomarker
|
disease |
BEFREE |
Objective To study the position of hemiplegic migraine in the clinical spectrum of migraine with aura and to reveal the importance of CACNA1A, ATP1A2 and SCN1A in the development of hemiplegic migraine in Finnish migraine families.
|
29486580 |
2018 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CACNA1A gene, encoding the pore-forming CaV2.1 (P/Q-type) channel α1A subunit, localized at presynaptic terminals of brain and cerebellar neurons, result in clinically variable neurological disorders including hemiplegic migraine (HM) and episodic or progressive adult-onset ataxia (EA2, SCA6).
|
28007337 |
2017 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine.
|
25468264 |
2015 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
|
24836863 |
2014 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation.
|
22082423 |
2012 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a Caucasian male with a novel CACNA1A mutation and an unusual clinical phenotype: the patient, who had had a history of only two HM attacks, sought medical advice at age 49 primarily because of increasing cognitive decline accompanied by cerebellar dysfunction.
|
21035146 |
2011 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A mutations can give significant symptoms other than (hemiplegic) migraine as reason for presentation.
|
21768184 |
2011 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we report a sporadic case of FHM1 linked to S218L CACNA1A gene mutation with the triad of prolonged hemiplegic migraine, cerebellar symptoms, and epileptic seizures.
|
20071244 |
2010 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An association between hemiplegic migraine (HM) and episodic ataxia type 2 (EA2) has been described; both disorders are linked to mutations in the CACNA1A gene.
|
19624685 |
2010 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated the FHM genes in patients with an early onset sporadic form of HM (onset before 16 years).
|
20837964 |
2010 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The authors identified five previously unreported large scale deletions in CACNA1A in seven families with episodic ataxia and in one case with hemiplegic migraine.
|
19586927 |
2009 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CACNA1A gene are found in hemiplegic migraine (HM).
|
19429006 |
2009 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
|
18498393 |
2008 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
|
18400034 |
2008 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic.
|
18644040 |
2008 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the genetic analysis of four families and one sporadic case with hemiplegic migraine (HM) in whom we searched for mutations in the three genes associated with the disease CACNA1A, ATP1A2 and SCN1A.
|
17877748 |
2007 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.
|
18056581 |
2007 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We examined our patient population with episodic ataxia and hemiplegic migraine but with no mutation in either CACNA1A or ATP1A2.
|
16116111 |
2005 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia.
|
15210532 |
2004 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/spasticity disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the chorea-acanthocytosis locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2; 9) the benign hereditary chorea locus on 14q; 10) the SCA type 5 locus on chromosome 11; and 11) the chromosome 19 region that contains several ion channels and the CACNA1A gene, a brain-specific P/Q-type calcium channel gene associated with ataxia and hemiplegic migraine.
|
11310626 |
2001 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A was analyzed and nine mutations were detected in 15 of 16 probands of families affected by hemiplegic migraine and cerebellar signs, in 2 of 3 subjects with sporadic hemiplegic migraine and cerebellar signs, and in 4 of 12 probands of families affected by pure hemiplegic migraine.
|
11439943 |
2001 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Decreased hemispheric water mobility in hemiplegic migraine related to mutation of CACNA1A gene.
|
10668728 |
2000 |
|
Hemiplegic migraine
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.
|
11061267 |
2000 |