Aida(M),Ozawa(J),Takahashi(Y),Miyatake(S),Wa… Eur Heart J Case Rep 2026-02-00

Several variants in ATP1A3, a gene encoding the α3-subunit of Na+/K+ adenosine triphosphatase (Na-K-ATPase), are reporte...

Errichiello(G),Bernardo(P),Acquaviva(F),Troi… Neurol Sci 2026-05-19

ATP1A3-related neurological disorders show a broad spectrum of manifestations, usually with autosomal dominant transmiss...

Rebelo Procaci(V),da Hora(RPC),Gomes(AM),Sil… Neurol Genet 2026-10-00

...ATP1A3 Study Group to comprehensively characterize the phenotypic and genotypic spectrum of ATP1A3-related disorders in ...

de Gusmao(CM),Katanaev(VL),Silveira-Moriyama… Mov Disord 2026-09-11

...ATP1A3, ATM, and ADCY5 genes. Novel small molecules have advanced for Friedreich's ataxia and Tourette's syndrome. Gene ...

Lal(JC),Leu(C),Boßelmann(CM),Ivaniuk(A),Pére… Epilepsia 2026-07-00

...ATP1A3), neurological disorders with comorbid seizures (HTRA2, KRIT1, STAG1), possible involvement in seizure phenotypes...

Khan(AO) Ophthalmic Genet 2026-06-16

...ATP1A3, NR2F1, PTCH1) or biallelic (ACO2, BTD, GALC, OPA1, WFS1, POLR3B). For these nine cases, two had treatable metabo...

Yilmaz(S),Serdaroglu(E),Simsek(E),Kara(B),Tu… Eur J Paediatr Neurol 2026-05-00

...ATP1A3, NKX2-1, PRKN, SCN4A, THAP1 (each 2.5%), and ultra-rare etiologies (single patients) were: ACY5, ADPRS, ANO3, COL...

Kravljanac(R),Klaassen(K),Oparnica(V),Tadic(… Diseases 2026-05-09

...ATP1A3 gene, recent studies have pinpointed to other causative genes in ATP1A3-negative patients, including RHOBTB2. In ...

Zhou(Y),Yan(L),Huang(M),Tu(Y),Chen(C),Zhang(… Zhonghua Yi Xue Yi Chuan Xue … 2026-08-10

...ATP1A3 gene to be the most common variant. The c.2267G>A (p.Arg756His) variant of the ATP1A3 gene probably underlay the ...

Meher(N),Kisan(B),Swain(SK),Mohanty(S),Sahoo… J Ethnopharmacol 2026-06-12

...ATP1A3 was additionally evaluated in the sciatic nerve to assess the integrity of neural tissue. Histological analyses w...