Results 11 to 20 of about 3,294 (160)

Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families [PDF]

Arquivos de Neuro-Psiquiatria, 2006
Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes.
Luciana R. Lopes, Mario Fernando Prieto Peres, Kaate R.J. Vanmolkot, Patrícia R. Tobo, Eliova Zukerman, Rune R. Frants, Arn M.J.M. van den Maagdenberg, Carlos Alberto Moreira-Filho   +7 more
doaj   +3 more sources

Familial Hemiplegic Migraine With ATP1A2 Mutations

Pediatric Neurology Briefs, 2007
Three children with prolonged hemiplegia following severe unilateral headache and having mutations in ATP1A2 are reported from UCLA School of Medicine, Los Angeles, CA; University Children’s Hospital, Zurich, Switzerland; and Wake Forest University ...
J Gordon Millichap
doaj   +2 more sources

Targeted ASO-mediated Atp1a2 knockdown in astrocytes reduces SOD1 aggregation and accelerates disease onset in mutant SOD1 mice. [PDF]

PLoS ONE, 2023
Astrocyte-specific ion pump α2-Na+/K+-ATPase plays a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS). Here, we test the effect of Atp1a2 mRNA-specific antisense oligonucleotides (ASOs) to induce α2-Na+/K+-ATPase knockdown in the ...
Abhirami K Iyer, Kathleen M Schoch, Anthony Verbeck, Grant Galasso, Hao Chen, Sarah Smith, Anna Oldenborg, Timothy M Miller, Celeste M Karch, Azad Bonni   +9 more
doaj   +2 more sources

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

Molecular Genetics & Genomic Medicine, 2023
Background Pathogenic variants of ATP1A2 (OMIM ID: 182340) are usually associated with familial hemiplegic migraine type 2 (FHM‐2), alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy (EIEE), transient cytotoxic edema, and
Xin Zhang, Shiyan Qiu, Li Yang, Yufen Li, Liyun Xu, Na Xu, Changrui Mi, Menglin Li   +7 more
doaj   +2 more sources

A novel mutation in the ATP1A2 gene associated with a sporadic hemiplegic migraine and multiple supraventricular arrhythmias: A case report

Cephalalgia Reports
Introduction ATP1A2 mutations are identified as a genetic cause of type 2 hemiplegic migraine, but to date, no ATP1A2 gene variant has been linked to heart rhythm disorders Case presentation A 37-year-old woman presented with sporadic hemiplegic migraine
Sarvnaz Shalchian Tehran, Pierre Maquet
doaj   +2 more sources

Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation [PDF]

Case Reports in Neurological Medicine, 2016
Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described. Methods.
E. Martínez, R. Moreno, L. López-Mesonero, I. Vidriales, M. Ruiz, A. L. Guerrero, J. J. Tellería   +6 more
doaj   +2 more sources

Sporadic Hemiplegic Migraine Presenting ATP1A2 Mutation in Korea [PDF]

, 2022
Hemiplegic migraine (HM) is a rare form of migraine, characterized by migraine with reversible motor weakness. HM can be divided into sporadic and familiar HM based on familiarity. Mutations in CACNA1A, ATP1A2 and SCN1A were identified in familiar HM. We
주민경, 신새암
core   +1 more source

De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report

BMC Medical Genomics, 2021
Background ATP1A2 gene mutation has been indicated to cause alternating hemiplegia of childhood (AHC); however, limited evidence supports this relationship so far.
Danping Huang, Min Liu, Hongying Wang, Bingbing Zhang, Dongjing Zhao, Weihao Ling, Manli Wang, Jun Feng, Yiping Shen, Xuqin Chen   +9 more
doaj   +1 more source

A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred [PDF]

, 2022
Objective: We studied a large Irish Caucasian pedigree with familial hemiplegic migraine (FHM) with the aim of finding the causative gene mutation. Background: FHM is a rare autosomal-dominant subtype of migraine with aura, which is linked to 4 loci on ...
Parfrey, Nollaig A., Fernandez, Desiree M., Sweeney, Brian J., Hand, Collette K.   +3 more
core   +1 more source

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2 [PDF]

, 2017
BACKGROUND Pathogenic heterozygous variants in the ATP1A2 gene have most commonly been associated with familial hemiplegic migraine. However, a wide spectrum of phenotypes that include alternating hemiplegia of childhood and epilepsy have been described.
Nelson, Tanya N, Demos, Michelle, Farrer, Matthew J, Toyota, Eric B, Van Allen, Margot I, Adam, Shelin, Anita Datta, Matthew J. Farrer, Sarah E. Buerki, Mary B. Connolly, Ilaria Guella, Daniel M. Evans, Guella, Ilaria, Buerki, Sarah E, McKenzie, Marna B, Connolly, Mary B, Marna B. McKenzie, Bürki, Sarah Elisabeth, Colin Wilbur, Evans, Daniel M, Shelin Adam, Margot I. Van Allen, Michoulas, Aspasia, Eric B. Toyota, Tanya N. Nelson, Michelle Demos, Wilbur, Colin, Datta, Anita, Aspasia Michoulas   +28 more
core   +2 more sources