scholarly journals Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

2006 ◽  
Vol 14 (5) ◽  
pp. 555-560 ◽  
Author(s):  
Kaate R J Vanmolkot ◽  
Esther E Kors ◽  
Ulku Turk ◽  
Dylsad Turkdogan ◽  
Antoine Keyser ◽  
...  
Keyword(s):  
De Novo ◽  
Familial Hemiplegic Migraine ◽  
De Novo Mutations ◽  
Hemiplegic Migraine ◽  
Atpase Gene

scholarly journals The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Maria A. Gandini ◽  
Ivana A. Souza ◽  
Laurent Ferron ◽  
A. Micheil Innes ◽  
Gerald W. Zamponi
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
Structural Damage ◽  
De Novo ◽  
Splice Variants ◽  
Cerebellar Atrophy ◽  
Familial Hemiplegic Migraine ◽  
Significant Loss ◽  
Loss Of Function ◽  
Hemiplegic Migraine

AbstractCACNA1A pathogenic variants have been linked to several neurological disorders including familial hemiplegic migraine and cerebellar conditions. More recently, de novo variants have been associated with severe early onset developmental encephalopathies. CACNA1A is highly expressed in the central nervous system and encodes the pore-forming CaVα1 subunit of P/Q-type (Cav2.1) calcium channels. We have previously identified a patient with a de novo missense mutation in CACNA1A (p.Y1384C), characterized by hemiplegic migraine, cerebellar atrophy and developmental delay. The mutation is located at the transmembrane S5 segment of the third domain. Functional analysis in two predominant splice variants of the neuronal Cav2.1 channel showed a significant loss of function in current density and changes in gating properties. Moreover, Y1384 variants exhibit differential splice variant-specific effects on recovery from inactivation. Finally, structural analysis revealed structural damage caused by the tyrosine substitution and changes in electrostatic potentials.

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.

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine

Neurology ◽  
2010 ◽  
Vol 75 (11) ◽  
pp. 967-972 ◽  
Author(s):  
F. Riant ◽  
A. Ducros ◽  
C. Ploton ◽  
C. Barbance ◽  
C. Depienne ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
De Novo Mutations ◽  
Hemiplegic Migraine

scholarly journals First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine

2007 ◽  
Vol 15 (8) ◽  
pp. 884-888 ◽  
Author(s):  
Kaate R J Vanmolkot ◽  
Anine H Stam ◽  
Ashok Raman ◽  
Jan B Koenderink ◽  
Boukje de Vries ◽  
...  
Keyword(s):  
Familial Hemiplegic Migraine ◽  
Compound Heterozygosity ◽  
Hemiplegic Migraine ◽  
First Case ◽  
Atpase Gene
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