Results 1 to 10 of about 3,294 (160)

The ATP1A2 Mutation Associated with Hemiplegic Migraines: Case Report and Literature Review

Clinical and Translational Neuroscience, 2022
Familial hemiplegic migraine type 2 is a premonitory subtype of migraine caused by an ATP1A2 gene mutation. It is an autosomal dominant genetic disease.
Changyue Liu, Wei Yue
doaj   +2 more sources

Jujuboside A induces bladder cancer cell apoptosis by inhibiting ATP1A2-mediated mitochondrial energy metabolism regulation [PDF]

Cancer Biology & Therapy
Background Conventional treatments for bladder cancer exhibit various limitations. Therefore, natural products, such as jujuboside A (JuA), have been explored for their multi-target effects and low toxicity.
Meng Zhu, Yuepeng Liu, Yumin Jia, Lixin Ren, Shuhui An, Yaxuan Wang   +5 more
doaj   +2 more sources

Impaired Hepatic Glucose Metabolism Is Associated With Glucose Intolerance in Mice Carrying α₂ Isoform Na,K-ATPase Mutation. [PDF]

Acta Physiol (Oxf)
ABSTRACT Aim The Na,K‐ATPase is important for energy demanding cellular processes, including essential components of substrate metabolism and metabolic flexibility. Mice heterozygous for the hemiplegic migraine‐related mutation, G301R, of the Na,K‐ATPase α2 isoform (α2+/G301R) demonstrated altered metabolism in the heart.
Staehr C, Nguyen TD, Pedersen TM, Vendelbo M, Beck HC, Kjolby M, Rajanathan R, Bouzinova EV, Jessen N, Jeppesen PB, Chibalin AV, Matchkov VV.   +11 more
europepmc   +2 more sources

Astrocytes in Atp1a2‐deficient heterozygous mice exhibit hyperactivity after induction of cortical spreading depression

FEBS Open Bio, 2020
The ATP1A2 coding α2 subunit of Na,K‐ATPase, which is predominantly located in astrocytes, is a causative gene of familial hemiplegic migraine type 2 (FHM2).
Junichi Nakai, Kiyoshi Kawakami, Masaaki Sato   +2 more
exaly   +2 more sources

Dissociated neurovascular dynamics in ATP1A2-related familial hemiplegic migraine mimicking acute ischemic stroke [PDF]

BMC Neurology
Background Hemiplegic migraine (HM) is a rare migraine subtype with motor aura. Familial hemiplegic migraine type 2 (FHM2), caused by ATP1A2 mutations, often mimics acute stroke, making early neuroimaging differentiation critical. While dynamic perfusion
Gha-hyun Lee, Jiyoung Kim, Jae Wook Cho
doaj   +2 more sources

Genetic and Pharmacologic Inhibition of Myostatin Restores Muscle Mass in a Dynamin 2-Related Centronuclear Myopathy Mouse Model. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Autosomal dominant centronuclear myopathy (ADCNM), most commonly caused by mutations in the dynamin 2 (DNM2) gene, is a rare congenital myopathy characterized by progressive muscle weakness and atrophy. Myostatin, a key negative regulator of skeletal muscle mass, has shown therapeutic potential in several models of neuromuscular ...
Anne-Cécile D, David A, Mathias V, Valentine A, Chloé P, Quentin D, Esra K, Sidney C, Emmanuelle G, Louise C, Alexandre G, Josiane C, Aja P, Maximilien B, Baptiste M, Christophe H, Schaeffer L, Olli R, Marc B, Rémi M, Damien F.   +20 more
europepmc   +2 more sources

Movement Disorders in Developmental and Epileptic Encephalopathies. [PDF]

Mov Disord Clin Pract
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Mohammad S, Ebrahimi-Fakhari D, Morales-Briceno H.   +2 more
europepmc   +2 more sources

Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients [PDF]

Biomedicines
Background: Familial hemiplegic migraine (FHM) is a rare and severe form of migraine disorder featuring aura symptoms that include hemiplegia during attacks.
Thais Zielke, Heidi G. Sutherland, Neven Maksemous, Robert A. Smith, Lyn R. Griffiths   +4 more
doaj   +2 more sources

Case report When Hemiplegic Migraine Defies Expectations: Diagnostic Complexity in a Rare Genetic Disorder [PDF]

Case Reports in Neurology
This case describes a diagnostically challenging presentation of familial hemiplegic migraine, combining prolonged hemiparesis, severe headaches, altered consciousness and fever.
Amandine Goossens, Vincenzo Pignato, Ann-Laurence Delabie, Tanguy Demaret, Deniz Karadurmus   +4 more
doaj   +2 more sources

Familial hemiplegic migraine type 2: a case report of an adolescent with ATP1A2 mutation

Frontiers in Neurology
This study presents a case report of a male adolescent diagnosed with familial hemiplegic migraine type 2 (FHM2), an autosomal dominant inheritance disorder caused by ATP1A2 mutation.
Hui Zhang, Hui Zhang, Li Jiang, Li Jiang, Yuqi Xian, Yuqi Xian, Sen Yang, Sen Yang   +7 more
exaly   +3 more sources