Results 71 to 80 of about 2,451 (126)

ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes. [PDF]

Neurol Sci
Errichiello G, Bernardo P, Acquaviva F, Troisi S, Rosa M, Bargiacchi G, Esposito F, Rubino A, Carotenuto M, Varone A, D'Acunto L.   +10 more
europepmc   +1 more source

ATP1A3: Uncommon and wavering epilepsy phenotype in a rare variant. [PDF]

Epileptic Disord
Camussi D, Vega G, Scalise R, Bartolini E.   +3 more
europepmc   +1 more source

ATP1A3 Acts as a Potential Anti-oncogene in Glioblastoma <i>via</i> the Antagonizing Interaction with Small Nuclear Ribonucleoprotein Polypeptide G. [PDF]

Curr Neuropharmacol
Zou S, Qin B, Chen Q, Shen Z, Liu Q, Zhu X, Lan Y.   +6 more
europepmc   +1 more source

Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report. [PDF]

Eur Heart J Case Rep
Aida M, Ozawa J, Takahashi Y, Miyatake S, Watanabe K.   +4 more
europepmc   +1 more source

A Rare CTBP1-Related Neurodevelopmental Disorder Is Associated with Impaired Mitochondrial Bioenergetics: A Functional Case Report. [PDF]

Int J Mol Sci
Ivanov Z, Gevezova M, Pacheva I, Ketev K, Chochkova-Bukova L, Sarafian V, Ivanov I.   +6 more
europepmc   +1 more source

Deep Brain Stimulation for Dystonia and Epilepsy in Alternating Hemiplegia of Childhood. [PDF]

Mov Disord
Lin A, Grant G, Harward S, Agashe S, Jasien JM, Boggs A, Mikati MA.   +6 more
europepmc   +1 more source

The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients. [PDF]

Mov Disord
Bernardi K, Zhou A, Yang K, Rong J, Quiroz V, Alecu JE, Agianda HAP, Schmidt HJD, Tam A, Carty S, Espasandin-Hueter N, Macaya A, Stamelou M, Pringsheim T, Means M, Lakhotia A, Blackburn J, Zea Vera A, Becker LF, Brüggemann N, Münchau A, Seliverstov Y, Vogt L, Gorodetsky C, Levine JM, Runco AD, Calame DG, Dai L, Ding C, Ebrahimi-Fakhari D.   +29 more
europepmc   +1 more source

CAPOS and Beyond: <i>ATP1A3</i> Variants in Pediatric Movement Disorders - Case Reports. [PDF]

Mol Syndromol
Yanartaş MS, Köken ÖY, Ceylan AC, Bozacı AE, Kara TT, Haspolat Ş.   +5 more
europepmc   +1 more source

The Genetic Causes of Auditory Neuropathy: A Systematic Review. [PDF]

J Clin Med
Yong N, Cao M, Anderson E, Downie L, Rance G, Bai J, Liddle K, Howard A, Smith L, Sung V, Wang J.   +10 more
europepmc   +1 more source

Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood. [PDF]

Orphanet J Rare Dis
Leite JA, de Oliveira Barbosa LA, Woods RL, El-Mallakh RS.   +3 more
europepmc   +1 more source