Familial “Diplegic” Migraine – Description of a Family With a Novel CACNA1A Mutation

2020 ◽  
Vol 60 (3) ◽  
pp. 600-606 ◽  
Author(s):  
Adam S. Sprouse Blum ◽  
Cody J. Couperus ◽  
Brian J. Rosen ◽  
Leanne F. Haskin‐Leahy ◽  
Robert E. Shapiro
Keyword(s):  
Cacna1a Mutation

CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood

Cephalalgia ◽  
2008 ◽  
Vol 28 (8) ◽  
pp. 887-891 ◽  
Author(s):  
B de Vries ◽  
AH Stam ◽  
F Beker ◽  
AMJM van den Maagdenberg ◽  
KRJ Vanmolkot ◽  
...  
Keyword(s):  
Clinical Features ◽  
Molecular Mechanisms ◽  
De Novo ◽  
Monozygotic Twin ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Mutation Scanning ◽  
Alternating Hemiplegia Of Childhood ◽  
Neurological Phenotype ◽  
Cacna1a Mutation

Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlapping with both AHC and FHM and identified a novel de novo CACNA1A mutation. We provide the first evidence that a CACNA1A mutation can cause atypical AHC, indicating an overlap of molecular mechanisms causing AHC and FHM. These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia.

P217 Congenital ataxia and dyskinesia as presenting signs of a de novo CACNA1A mutation

2009 ◽  
Vol 13 ◽  
pp. S88
Author(s):  
L. Blumkin ◽  
M. Michelson ◽  
S. Kivity ◽  
D. Lev ◽  
T. Lerman-Sagie
Keyword(s):  
De Novo ◽  
Cacna1a Mutation

scholarly journals Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation

Seizure ◽  
2017 ◽  
Vol 45 ◽  
pp. 189-191 ◽  
Author(s):  
Xiaoping Du ◽  
You Chen ◽  
Yongxiong Zhao ◽  
Wei Luo ◽  
Zhidong Cen ◽  
...  
Keyword(s):  
De Novo ◽  
Absence Epilepsy ◽  
Cacna1a Mutation

scholarly journals Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3

Eye ◽  
2009 ◽  
Vol 23 (12) ◽  
pp. 2251-2255 ◽  
Author(s):  
J Self ◽  
C Mercer ◽  
E M J Boon ◽  
M Murugavel ◽  
F Shawkat ◽  
...  
Keyword(s):  
Late Onset ◽  
Intracellular Loop ◽  
Infantile Nystagmus ◽  
Domain 3 ◽  
Cacna1a Mutation

Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation

2017 ◽  
Vol 381 ◽  
pp. 4-6 ◽  
Author(s):  
Mitsunori Shimmura ◽  
Taira Uehara ◽  
Kenichiro Yamashita ◽  
Hiroshi Shigeto ◽  
Ryo Yamasaki ◽  
...  
Keyword(s):  
Eye Movement ◽  
Smooth Pursuit ◽  
Episodic Ataxia ◽  
Smooth Pursuit Eye Movement ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation
Sign in / Sign up

Export Citation Format

Share Document