scholarly journals Recurrence of the T666M Calcium Channel CACNA1A Gene Mutation in Familial Hemiplegic Migraine with Progressive Cerebellar Ataxia

1999 ◽  
Vol 64 (1) ◽  
pp. 89-98 ◽  
Author(s):  
A. Ducros ◽  
C. Denier ◽  
A. Joutel ◽  
K. Vahedi ◽  
A. Michel ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Gene Mutation ◽  
Cerebellar Ataxia ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Progressive Cerebellar Ataxia ◽  
Cacna1a Gene

Familial Hemiplegic Migraine: A Clinical Comparison of Families Linked and Unlinked to Chromosome 19

Cephalalgia ◽  
1996 ◽  
Vol 16 (3) ◽  
pp. 153-155 ◽  
Author(s):  
GM Terwindt ◽  
RA Ophoff ◽  
J Haan ◽  
RR Frants ◽  
MD Ferrari ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Features ◽  
Head Trauma ◽  
Clinical Characteristics ◽  
Age At Onset ◽  
Familial Hemiplegic Migraine ◽  
Chromosome 19 ◽  
Hemiplegic Migraine ◽  
Clinical Comparison ◽  
Progressive Cerebellar Ataxia

We compared the clinical characteristics of 50 patients from three unrelated families with familial hemiplegic migraine (FHM) linked to chromosome 19, with those of 20 patients from two families with FHM not linked to chromosome 19. We found no significant differences for age at onset, frequency and duration of attacks, duration of the paresis, and occurrence of basilar migraine symptoms. In the linked families, significantly more patients reported unconsciousness during attacks (39%, vs 15%; p<0.05) and provocation of attacks by mild head trauma (70% vs 40%; p< 0.05). In one linked family patients also displayed chronic progressive cerebellar ataxia, whereas in one unlinked family benign infantile convulsions occurred in addition to FHM. Interestingly, so far an association with cerebellar ataxia was only described in chromosome 19-linked families. FHM linked to chromosome 19 and FHM unlinked to chromosome 19 do not differ with respect to clinical features.

New CACNA1A Gene Mutation in a Case of Familial Hemiplegic Migraine with Status epilepticus

2004 ◽  
Vol 52 (1) ◽  
pp. 58-61 ◽  
Author(s):  
Katell Beauvais ◽  
Florence Cavé-Riant ◽  
Claire De Barace ◽  
Marc Tardieu ◽  
Elisabeth Tournier-Lasserve ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Gene Mutation ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Cacna1a Gene

scholarly journals Effects of LPS on P2X3 receptors of trigeminal sensory neurons and macrophages from mice expressing the R192Q Cacna1a gene mutation of familial hemiplegic migraine-1

2012 ◽  
Vol 9 (1) ◽  
pp. 7-13 ◽  
Author(s):  
Alessia Franceschini ◽  
Swathi K. Hullugundi ◽  
Arn M. J. M. van den Maagdenberg ◽  
Andrea Nistri ◽  
Elsa Fabbretti
Keyword(s):  
Gene Mutation ◽  
Sensory Neurons ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
P2x3 Receptors ◽  
Cacna1a Gene

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia

Neurology ◽  
1999 ◽  
Vol 53 (1) ◽  
pp. 38-38 ◽  
Author(s):  
S. Battistini ◽  
S. Stenirri ◽  
M. Piatti ◽  
C. Gelfi ◽  
P. G. Righetti ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Cacna1a Gene

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

2017 ◽  
Vol 51 (2) ◽  
pp. 184-189
Author(s):  
Biruta Kierdaszuk ◽  
Dorota Dziewulska ◽  
Ewa Pronicka ◽  
Joanna Trubicka ◽  
Dariusz Rokicki ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Cacna1a Gene

The FHM1 Mutation S218L: A Severe Clinical Phenotype? A Case Report and Review of the Literature

Cephalalgia ◽  
2009 ◽  
Vol 29 (12) ◽  
pp. 1337-1339 ◽  
Author(s):  
S Debiais ◽  
C Hommet ◽  
I Bonnaud ◽  
MA Barthez ◽  
S Rimbaux ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Cerebral Oedema ◽  
Clinical Phenotype ◽  
Pregnant Patient ◽  
Familial Hemiplegic Migraine ◽  
Review Of The Literature ◽  
Severe Phenotype ◽  
Hemiplegic Migraine ◽  
Motor Weakness ◽  
Cacna1a Gene

Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura that is characterized by motor weakness during attacks. FHM1 is associated with mutations in the CACNA1A gene located on chromosome 19. We report a severe, prolonged HM attack in a young pregnant patient who had the S218L FHM1. This CACNA1A mutation has been associated with HM, delayed cerebral oedema and coma following minor head trauma. The case history we report suggests a specific, severe phenotype and the co-occurrence of HM and epilepsy related to the S218L FHM1 mutation.

Sign in / Sign up

Export Citation Format

Share Document