Results 31 to 40 of about 3,294 (160)

INSIGHTS INTO THE PATHOLOGY OF THE α2-Na+/K+-ATPase IN NEUROLOGICAL DISORDERS; LESSONS FROM ANIMAL MODELS

Frontiers in Physiology, 2016
A functional Na+/K+-ATPase consists of a catalytic α subunit and a regulatory β subunit. Four α isoforms of the Na+/K+-ATPase are found in mammals, each with a unique expression pattern and catalytic activity.
Toke Jost Isaksen, Toke Jost Isaksen, Karin eLykke-Hartmann, Karin eLykke-Hartmann, Karin eLykke-Hartmann   +4 more
doaj   +1 more source

Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

The Journal of Headache and Pain, 2021
Background The mechanisms of genotype-phenotype interaction in Familiar Hemiplegic migraine type 2 (FHM2) are still far from clear. Different ATP1A2 mutations have been described, with a spectrum of phenotypes ranging from mild to severe.
Fabio Antonaci, Sabrina Ravaglia, Gaetano S. Grieco, Stella Gagliardi, Cristina Cereda, Alfredo Costa   +5 more
doaj   +1 more source

Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine

Cephalalgia Reports, 2019
Objective: Hemiplegic migraine in both familial (FHM) and sporadic (SHM) forms is a rare subtype of migraine with aura that can be traced to mutations in the CACNA1A , ATP1A2 and SCN1A genes.
Neven Maksemous, Robert A Smith, Heidi G Sutherland, Bridget H Maher, Omar Ibrahim, Garth A Nicholson, Elisabeth P Carpenter, Rod A Lea, M Zameel Cader, Lyn R Griffiths   +9 more
doaj   +1 more source

Atp1a2 knockdown induced transcriptomic changes in spinal cord tissue from SOD1*G93A mice.

, 2023
Volcano plots showing differentially expressed genes between ASO1 (A) or ASO3 (B) vs ctrl ASO-treated spinal cord tissue (shown in blue and red are genes with p-value Atp1a2, Fxyd1 and Sod1 altered in response to Atp1a2 ASO treatment.
Azad Bonni (221908), Kathleen M. Schoch (17468095), Anthony Verbeck (17468098), Timothy M. Miller (2480425), Hao Chen (5190), Celeste M. Karch (13110199), Abhirami K. Iyer (17468092), Grant Galasso (17468101), Sarah Smith (63540), Anna Oldenborg (17468104)   +9 more
core   +1 more source

Summary of transcriptomic changes in response to Atp1a2 ASO treatment.

, 2023
Knockdown of Atp1a2 specifically expressed in astrocytes by ASOs leads to downregulation (highlighted as blue font) of the oxidative stress response Nrf2-ARE, metabolic, immune activation and trans-synaptic signaling pathways.
Azad Bonni (221908), Kathleen M. Schoch (17468095), Anthony Verbeck (17468098), Timothy M. Miller (2480425), Hao Chen (5190), Celeste M. Karch (13110199), Abhirami K. Iyer (17468092), Grant Galasso (17468101), Sarah Smith (63540), Anna Oldenborg (17468104)   +9 more
core   +1 more source

Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review

Rambam Maimonides Medical Journal
Alternating hemiplegia of childhood (AHC) is a complex neurodevelopmental disorder characterized by paroxysmal and transient events of unilateral or bilateral paresis, usually occurring before 18 months of age.
Jamir Pitton Rissardo, Nilofar Murtaza Vora, Yogendra Singh, Sweta Kishore, Ana Letícia Fornari Caprara   +4 more
doaj   +1 more source

Epilepsy as part of the phenotype associated with ATP1A2 mutations

, 2008
PURPOSE: Mutations in the ATP1A2 gene have been described in families with familial hemiplegic migraine (FHM). FHM is a variant of migraine with aura characterized by the occurrence of hemiplegia during the aura.
Suls, Arvid, Weckhuysen, Sarah, Peeters, Katelijne, Claes, Lieve R.F., Van Paesschen, Wim, Palmini, André, Van Dyck, Tine, Matthijs, Gert, De Jonghe, Peter, Deconinck, Tine, Claeys, Kristl, Deprez, Liesbet   +11 more
core   +1 more source

Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2) [PDF]

, 2012
INTRODUCTION: Neuropsychological symptoms are rare in familial hemiplegic migraine (FHM). There are no reports of psychotic symptoms in FHM type 2 (ATP1A2). We examined a family with a FHM phenotype due to a M731T mutation in ATP1A2.
Matos, I., Mendes, A., Barros, J., Pereira-Monteiro, J., Alexandre Mendes, José Pereira-Monteiro, Ilda Matos, José Barros   +7 more
core   +2 more sources

In vivo validation of Atp1a2 knockdown.

, 2023
(A) Overview of dose response study (n = 3–4 female mice/group, 6–9 weeks old mice, prior to disease onset). B-C. Atp1a2 mRNA levels in CNS regions 2 weeks after ICV treatment with ASO1 (B) or ASO3 (C), represented as percentages of that in respective ...
Azad Bonni (221908), Kathleen M. Schoch (17468095), Anthony Verbeck (17468098), Timothy M. Miller (2480425), Hao Chen (5190), Celeste M. Karch (13110199), Abhirami K. Iyer (17468092), Grant Galasso (17468101), Sarah Smith (63540), Anna Oldenborg (17468104)   +9 more
core   +1 more source

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. [PDF]

, 2007
Contains fulltext : 53476.pdf (Publisher’s version ) (Open Access)Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura. Three genes have been identified, all involved in ion transport.
Vanmolkot, K.R., Martins, Isabel Pavão, Pereira-Monteiro, J.M., Pereira-Monteiro, José M., Mendes, Alexandre P., Vanmolkot, Kaate R. J., Castro, M.J., Ferrari, Michel D., Lemos, C., Mendes, A.P., Lemos, Carolina, Gouveia, R.G., Maagdenberg, A.M.J.M. van den, Frants, R.R., Barros, José, Martins, I.P., Koenderink, J.B., Koenderink, Jan B., Barros, J., Ferrari, M.D., Castro, Maria-José, Frants, Rune R., Stam, Anine H., Stam, A.H., Gil-Gouveia, Raquel, Sequeiros, Jorge, van den Maagdenberg, Arn M. J. M., Sequeiros, J.   +27 more
core   +2 more sources