scholarly journals CaV2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: Implications for calcium channelopathies

Channels ◽  
2009 ◽  
Vol 3 (2) ◽  
pp. 110-121 ◽  
Author(s):  
Paul J. Adams ◽  
Esperanza Garcia ◽  
Laurence S. David ◽  
Kirk J. Mulatz ◽  
Sian D. Spacey ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Calcium Channel ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Functional Impact

The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel

2001 ◽  
Vol 345 (1) ◽  
pp. 17-24 ◽  
Author(s):  
Anne Ducros ◽  
Christian Denier ◽  
Anne Joutel ◽  
Michaëlle Cecillon ◽  
Christelle Lescoat ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Familial Hemiplegic Migraine ◽  
Clinical Spectrum ◽  
Hemiplegic Migraine ◽  
Neuronal Calcium Channel

scholarly journals Gating Deficiency in a Familial Hemiplegic Migraine Type 1 Mutant P/Q-type Calcium Channel

2005 ◽  
Vol 280 (25) ◽  
pp. 24064-24071 ◽  
Author(s):  
Curtis F. Barrett ◽  
Yu-Qing Cao ◽  
Richard W. Tsien
Keyword(s):  
Calcium Channel ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine

Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine

Neurology ◽  
1998 ◽  
Vol 50 (4) ◽  
pp. 1105-1111 ◽  
Author(s):  
G. M. Terwindt ◽  
R. A. Ophoff ◽  
J. Haan ◽  
M. N. Vergouwe ◽  
R. van Eijk ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Familial Hemiplegic Migraine ◽  
Clinical Expression ◽  
Hemiplegic Migraine ◽  
Channel Gene

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

scholarly journals The Genetic Basis of Migraine: How Much Do We Know?

1999 ◽  
Vol 26 (3) ◽  
pp. 37-43 ◽  
Author(s):  
Kathy Gardner
Keyword(s):  
Calcium Channel ◽  
Genetic Basis ◽  
Twin Studies ◽  
Familial Hemiplegic Migraine ◽  
Neuronal Membrane ◽  
Hemiplegic Migraine ◽  
Chromosome 1Q ◽  
Chromosome 19P ◽  
Related Proteins

Migraine with and without aura is thought to be genetically complex with aggregation in families due to a combination of environmental and genetic tendencies. Twin studies are most important in establishing the multifactorial nature of migraine with heritability approaching 50%. Familial hemiplegic migraine (FHM) on the other hand is an autosomal dominant, highly penetrant, though rare form of migraine with strong genetic tendency. Fifty percent of families with FHM are linked to chromosome 19p13 and mutations demonstrated for some in a brain expressed calcium channel alpha 1A subunit, CACNL1A4. Other FHM loci have been identified on chromosome 1q and further genetic heterogeneity is likely. The exact role of the mutated calcium channel in the pathway leading to hemiplegic migraine is yet to be established. Changes in the electrophysiologic properties of the mutated forms of the CACNL1A4 calcium channel expressed in heterologous systems help establish the functional significance of the mutations and suggest that chromosome 19p-linked FHM, an episodic disorder, represents a CNS channelopathy. Additional candidate genes causative for migraine might include other calcium channel subunits and related proteins important for neuronal membrane stability. Delineating the cascade of biochemical events leading to hemiplegic migraine will serve as a model for understanding the pathophysiology of more common forms of migraine. The evidence suggesting that some families of migraine with and without aura might also be related to the chromosome 19p locus, chromosome Xq28 locus, or DRD2 receptor polymorphisms is reviewed.

scholarly journals Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
David Fear ◽  
Misha Patel ◽  
Ramin Zand
Keyword(s):  
Magnetic Resonance Imaging ◽  
Family History ◽  
Magnetic Resonance ◽  
Familial Hemiplegic Migraine ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Hemiplegic Migraine ◽  
Magnetic Resonance Imaging Mri ◽  
Mri Changes

Abstract Background Hemiplegic migraines represent a heterogeneous disorder with various presentations. Hemiplegic migraines are classified as sporadic or familial based on the presence of family history, but both subtypes have an underlying genetic etiology. Mutations in the ATP1A2 gene are responsible for Familial Hemiplegic type 2 (FHM2) or the sporadic hemiplegic migraine (SHM) counterpart if there is no family history of the disorder. Manifestations include migraine with aura and hemiparesis along with a variety of other symptoms likely dependent upon the specific mutation(s) present. Case presentation We report the case of an adult man who presented with headache, aphasia, and right-sided weakness. Workup for stroke and various infectious agents was unremarkable during the patient’s extended hospital stay. We emphasize the changes in the Magnetic Resonance Imaging (MRI) over time and the delay from onset of symptoms to MRI changes in Isotropic Diffusion Map (commonly referred to as Diffusion Weighted Imaging (DWI)) as well as Apparent Diffusion Coefficient (ADC). Conclusions We provide a brief review of imaging findings correlated with signs/symptoms and specific mutations in the ATP1A2 gene reported in the literature. Description of the various mutations and consequential presentations may assist neurologists in identifying cases of Hemiplegic Migraine, which may include transient changes in ADC and DWI imaging throughout the course of an attack.

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