scholarly journals Specific Kinetic Alterations of Human CaV2.1 Calcium Channels Produced by Mutation S218L Causing Familial Hemiplegic Migraine and Delayed Cerebral Edema and Coma after Minor Head Trauma

2005 ◽  
Vol 280 (18) ◽  
pp. 17678-17686 ◽  
Author(s):  
Angelita Tottene ◽  
Francesca Pivotto ◽  
Tommaso Fellin ◽  
Tiziana Cesetti ◽  
Arn M. J. M. van den Maagdenberg ◽  
...  
Keyword(s):  
Calcium Channels ◽  
Head Trauma ◽  
Cerebral Edema ◽  
Familial Hemiplegic Migraine ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine

Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine

2001 ◽  
Vol 49 (6) ◽  
pp. 753-760 ◽  
Author(s):  
Esther E. Kors ◽  
Gisela M. Terwindt ◽  
Frans L.M.G. Vermeulen ◽  
Robin B. Fitzsimons ◽  
Philip E. Jardine ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Head Trauma ◽  
Cerebral Edema ◽  
Familial Hemiplegic Migraine ◽  
Minor Head Trauma ◽  
Subunit Gene ◽  
Hemiplegic Migraine

A Novel ATP1A2 Mutation in a Family with FHM Type II

Cephalalgia ◽  
2006 ◽  
Vol 26 (3) ◽  
pp. 324-328 ◽  
Author(s):  
F Pierelli ◽  
GS Grieco ◽  
F Pauri ◽  
C Pirro ◽  
G Fiermonte ◽  
...  
Keyword(s):  
Head Trauma ◽  
Migraine With Aura ◽  
Cerebral Angiography ◽  
Autosomal Dominant ◽  
Familial Hemiplegic Migraine ◽  
Type Ii ◽  
Minor Head Trauma ◽  
Genetic Investigation ◽  
Hemiplegic Migraine ◽  
Autosomal Dominant Pattern

Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura with an autosomal dominant pattern of inheritance. Six FHM families underwent extensive clinical and genetic investigation. The authors identified a novel ATP1A2 mutation (E700K) in three patients from one family. In the patients, attacks were triggered by several factors including minor head trauma. In one subject a 3-day coma developed after a cerebral angiography. Overall, the phenotype of the patients closely resembles that of previously reported cases of FHM type II. The E700K variant might be regarded as the cause of the disease in this family, but this was not tested functionally.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

Variable Manifestations of Familial Hemiplegic Migraine Associated With Reversible Cerebral Edema in Children

2012 ◽  
Vol 47 (3) ◽  
pp. 201-204 ◽  
Author(s):  
Sheila J. Asghar ◽  
Alessandra Milesi-Hallé ◽  
Chavvi Kaushik ◽  
Charles Glasier ◽  
Gregory B. Sharp
Keyword(s):  
Cerebral Edema ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine

CaV2.1 voltage activated calcium channels and synaptic transmission in familial hemiplegic migraine pathogenesis

2012 ◽  
Vol 106 (1-2) ◽  
pp. 12-22 ◽  
Author(s):  
Osvaldo D. Uchitel ◽  
Carlota González Inchauspe ◽  
Francisco J. Urbano ◽  
Mariano N. Di Guilmi
Keyword(s):  
Calcium Channels ◽  
Synaptic Transmission ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Migraine Pathogenesis

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.

scholarly journals Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models

2013 ◽  
Vol 6 (1) ◽  
pp. 15-26
Author(s):  
Osvaldo D. Uchitel ◽  
Carlota González Inchauspe ◽  
Mariano N. Di Guilmi
Keyword(s):  
Animal Models ◽  
Calcium Channels ◽  
Synaptic Transmission ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine

Minor Head Trauma–Induced Sporadic Hemiplegic Migraine Coma

2006 ◽  
Vol 34 (4) ◽  
pp. 329-332 ◽  
Author(s):  
Robert P. Curtain ◽  
Robert L. Smith ◽  
Mick Ovcaric ◽  
Lyn R. Griffiths
Keyword(s):  
Head Trauma ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine
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