| ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients. | ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.
Córdoba NM, Lince-Rivera I, Gómez JLR, Rubboli G, De la Rosa SO. | 10/29/2024 |
| The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients. | The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.
Dai L, Ding C, Tian X, Liu M, Ma Y, Chen C, Ren X, Li H. | 08/14/2023 |
| Hemiplegic migraine type 2 with new mutation of the ATP1A2 gene in Japanese cases. | Hemiplegic migraine type 2 with new mutation of the ATP1A2 gene in Japanese cases.
Oda I, Danno D, Saigoh K, Wolf J, Kawashita N, Hirano M, Samukawa M, Kitamura S, Kikui S, Takeshima T, Mitsui Y, Kusunoki S, Nagai Y. | 07/9/2022 |
| Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant. | Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant.
Kubota T, Nabatame S, Sato R, Hama M, Nishiike U, Mochizuki H, Takahashi MP, Takeshima T. | 01/22/2022 |
| Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2. | Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2.
Tang C, Unekawa M, Shibata M, Tomita Y, Izawa Y, Sugimoto H, Ikeda K, Kawakami K, Suzuki N, Nakahara J. | 10/30/2021 |
| ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. | ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R, ATP1A2/A3-collaborators. | 09/25/2021 |
| Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms. | Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.
Li Y, Tang W, Kang L, Kong S, Dong Z, Zhao D, Liu R, Yu S., Free PMC Article | 09/18/2021 |
| Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine. | Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine.
Rasmussen AH, Olofsson I, Chalmer MA, Olesen J, Hansen TF., Free PMC Article | 07/10/2021 |
| A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients. | A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.
Calame DG, Houck K, Lotze T, Emrick L, Parnes M. | 06/19/2021 |
| Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations. | Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.
Moya-Mendez ME, Mueller DM, Pratt M, Bonner M, Elliott C, Hunanyan A, Kucera G, Bock C, Prange L, Jasien J, Keough K, Shashi V, McDonald M, Mikati MA., Free PMC Article | 04/24/2021 |
| Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2. | Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2.
Antonaci F, Ravaglia S, Grieco GS, Gagliardi S, Cereda C, Costa A., Free PMC Article | 03/20/2021 |
| A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2. | A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2.
Tang W, Zhang M, Qiu E, Kong S, Li Y, Liu H, Dong Z, Yu S. | 11/21/2020 |
| Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. | Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. | 10/3/2020 |
| We have shown that mutations in CACNA1A, ATP1A2 and SCN1A are not the major cause of the disease in Finnish hemiplegic migraine patients | The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families.
Hiekkala ME, Vuola P, Artto V, Häppölä P, Häppölä E, Vepsäläinen S, Cuenca-León E, Lal D, Gormley P, Hämäläinen E, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Harno H, Havanka H, Keski-Säntti P, Färkkilä M, Palotie A, Wessman M, Kaunisto MA, Kallela M. | 09/28/2019 |
| Data implicate ATP1A2 as a new hypokalaemic periodic paralysis gene and leak currents as a common pathomechanism of hypokalaemic periodic paralysis. | A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Sampedro Castañeda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marques Caldas V, Conti Reed U, da Silva AMS, O'Callaghan B, Phadke R, Bugiardini E, Sud R, McCall S, Hanna MG, Poulsen H, Männikkö R, Matthews E., Free PMC Article | 07/20/2019 |
| The sporadic hemiplegic migraine is caused mutation of ATP1A2 gene. | Pediatric sporadic hemiplegic migraine (ATP1A2 gene): a case report and brief literature review.
Schwarz G, Anzalone N, Baldoli C, Impellizzeri M, Minicucci F, Comi G, Colombo B. | 12/22/2018 |
| A novel p.Arg348Pro ATP1A2 mutation was found in 14 family members: 12 with clinical familial hemiplegic migraine (FHM), one with psychomotor retardation and possible FHM, and one without FHM features | Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation.
Pelzer N, Blom DE, Stam AH, Vijfhuizen LS, Hageman A, van Vliet JA, Ferrari MD, van den Maagdenberg A, Haan J, Terwindt GM. | 07/14/2018 |
| On the other hand, the presence of KCNK18 mutation indicated another FHM subtype. | Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.
Domitrz I, Kosiorek M, Żekanowski C, Kamińska A., Free PMC Article | 12/17/2016 |
| A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine | A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.
Oh SK, Baek JI, Weigand KM, Venselaar H, Swarts HG, Park SH, Hashim Raza M, Jung DJ, Choi SY, Lee SH, Friedrich T, Vriend G, Koenderink JB, Kim UK, Lee KY., Free PMC Article | 01/16/2016 |
| Report tumor cell sensitivity to cardiac glycosides depends on pattern of expression of alpha1-, alpha2-, or alpha3-isoforms of Na-K-ATPase. | Cardiac glycosides induced toxicity in human cells expressing α1-, α2-, or α3-isoforms of Na-K-ATPase.
Cherniavsky Lev M, Karlish SJ, Garty H. | 10/3/2015 |
| Data indicate that a second-site mutation distant from Na+ site III increases Na+ affinity, Na(+),K(+)-ATPase activity, and cellular K+ uptake in mutants with the replacement of the aspartate. | Rescue of Na+ affinity in aspartate 928 mutants of Na+,K+-ATPase by secondary mutation of glutamate 314.
Holm R, Einholm AP, Andersen JP, Vilsen B., Free PMC Article | 06/27/2015 |
| genome-wide linkage analysis of the migraine phenotype in 38 families with Rolandic epilepsy; evidence found of linkage to migraine at chromosome 17q12-22 and suggestive evidence at 1q23.1-23.2, centering over the FHM2 locus | Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci.
Addis L, Chiang T, Clarke T, Hardison H, Kugler S, Mandelbaum DE, Novotny E, Wolf S, Strug LJ, Pal DK. | 12/20/2014 |
| Three patients with a proven mutation in the ATP1A2 gene clinically presented without hemiparesis. | Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene.
Roth C, Freilinger T, Kirovski G, Dunkel J, Shah Y, Wilken B, Rautenstrauß B, Ferbert A. | 10/25/2014 |
| mutations in the ATP1A2 gene might contribute to pulmonary arterial remodelling and pulmonary arterial hypertension | Pulmonary arterial hypertension in familial hemiplegic migraine with ATP1A2 channelopathy.
Montani D, Girerd B, Günther S, Riant F, Tournier-Lasserve E, Magy L, Maazi N, Guignabert C, Savale L, Sitbon O, Simonneau G, Soubrier F, Humbert M. | 10/18/2014 |
| Identification of a novel heterozygous mutation in the ATP1A2 gene (c.1766T>C, Ile589Thr) causing atypical alternating hemiplegia of childhood in a Saudi consanguineous family | A wide clinical phenotype spectrum in patients with ATP1A2 mutations.
Al-Bulushi B, Al-Hashem A, Tabarki B. | 09/27/2014 |