Research & Literature

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

Panagiotakaki E, De Grandis E, Stagnaro M, et al.

Orphanet journal of rare diseases 2015; (10()):123 doi:10.1186/s13023-015-0335-5.

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Hully M, Ropars J, Hubert L, et al.

Neurogenetics 2017; (18(1)):23-28 doi:10.1007/s10048-016-0498-9.

Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients.

Pisciotta L, Gherzi M, Stagnaro M, et al.

Brain & development 2017; (39(6)):521-528 doi:10.1016/j.braindev.2017.02.001.

Diagnosis and Treatment of Alternating Hemiplegia of Childhood.

Masoud M, Prange L, Wuchich J, et al.

Current treatment options in neurology 2017; (19(2)):8 doi:10.1007/s11940-017-0444-7.

Topiramate Therapy in Alternating Hemiplegia of Childhood.

Kasinathan A, Sharawat IK, Sahu JK, Sankhyan N

Indian journal of pediatrics 2017; (84(12)):957-958 doi:10.1007/s12098-017-2366-5.

Motor function domains in alternating hemiplegia of childhood.

Masoud M, Gordon K, Hall A, et al.

Developmental medicine and child neurology 2017; (59(8)):822-828 doi:10.1111/dmcn.13443.

More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome.

Algahtani H, Ibrahim B, Shirah B, et al.

Case reports in medicine 2017; (2017()):5769837 doi:10.1155/2017/5769837.

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

Wright CF, McRae JF, Clayton S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(10)):1216-1223 doi:10.1038/gim.2017.246.

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Schirinzi T, Graziola F, Cusmai R, et al.

Brain & development 2018; (40(5)):433-438 doi:10.1016/j.braindev.2018.01.002.

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Stagnaro M, Pisciotta L, Gherzi M, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018; (22(2)):264-271 doi:10.1016/j.ejpn.2018.01.010.

Mechanisms of increased hippocampal excitability in the Mashl+/- mouse model of Na+ /K+ -ATPase dysfunction.

Hunanyan AS, Helseth AR, Abdelnour E, et al.

Epilepsia 2018; (59(7)):1455-1468 doi:10.1111/epi.14441.

Progressive Brain Atrophy in Alternating Hemiplegia of Childhood.

Sasaki M, Ishii A, Saito Y, Hirose S

Movement disorders clinical practice 2017; (4(3)):406-411 doi:10.1002/mdc3.12451.

[Genotype-phenotype correlation in patients with alternating hemiplegia of childhood].

Li SP, Zhang YH, Yang XL, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(11)):811-817 doi:10.3760/cma.j.issn.0578-1310.2018.11.004.

Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.

Kansagra S, Ghusayni R, Kherallah B, et al.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2019; (15(1)):65-70 doi:10.5664/jcsm.7572.

An Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole.

Dundar NO, Cavusoglu D, Kaplan YC, Hasturk MO

Clinical neuropharmacology 2019; (42(3)):88-90 doi:10.1097/WNF.0000000000000339.

The epileptology of alternating hemiplegia of childhood.

Uchitel J, Helseth A, Prange L, et al.

Neurology 2019; (93(13)):e1248-e1259 doi:10.1212/WNL.0000000000008159.

Social impairments in alternating hemiplegia of childhood.

Uchitel J, Abdelnour E, Boggs A, et al.

Developmental medicine and child neurology 2020; (62(7)):820-826 doi:10.1111/dmcn.14473.

Non-motor symptoms in movement disorders: more than meets the eye.

Vigevano F

Developmental medicine and child neurology 2020; (62(7)):774 doi:10.1111/dmcn.14503.

Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.

Capuano A, Garone G, Tiralongo G, Graziola F

The application of clinical genetics 2020; (13()):71-81 doi:10.2147/TACG.S210325.

Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments.

Pratt M, Uchitel J, McGreal N, et al.

Orphanet journal of rare diseases 2020; (15(1)):231 doi:10.1186/s13023-020-01474-w.

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.

Balestrini S, Mikati MA, Álvarez-García-Rovés R, et al.

Neurology 2020; (95(21)):e2866-e2879 doi:10.1212/WNL.0000000000010794.

Gross Motor Function Disorders in Patients with Alternating Hemiplegia of Childhood.

Stępień A, Maślanko K, Krawczyk M, et al.

Journal of mother and child 2020; (24(1)):24-32 doi:10.34763/jmotherandchild.2020241.1935.000003.

A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.

Calame DG, Houck K, Lotze T, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021; (31()):21-26 doi:10.1016/j.ejpn.2021.01.004.

Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients.

Cordani R, Stagnaro M, Pisciotta L, et al.

Frontiers in neurology 2021; (12()):658451 doi:10.3389/fneur.2021.658451.

Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature.

Bhardwaj NK, Gowda VK, Sardesai AV

Journal of pediatric genetics 2021; (10(2)):111-115 doi:10.1055/s-0040-1714702.

Alternating Hemiplegia of Childhood Caused by ATP1A3 Mutations: A Report of Two Cases.

Yang GG, Zhao ZL, Yang Y, et al.

Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih 2021; (36(2)):150-157 doi:10.24920/003850.

Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.

Uchitel J, Wallace K, Tran L, et al.

Brain communications 2021; (3(3)):fcab128 doi:10.1093/braincomms/fcab128.

ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.

Moya-Mendez ME, Ogbonna C, Ezekian JE, et al.

Journal of the American Heart Association 2021; (10(17)):e019887 doi:10.1161/JAHA.120.019887.

An Inherited Cause of Stroke Mimic in a Toddler.

Yoganathan S, Kumar M, Sushma L, et al.

Indian journal of pediatrics 2022; (89(1)):98 doi:10.1007/s12098-021-03904-4.

Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.

De Vrieze J, van de Laar IMBH, de Rijk-van Andel JF, et al.

Child neurology open 2021; (8()):2329048X211048068 doi:10.1177/2329048X211048068.

Progression of alternating hemiplegia of childhood-related focal epilepsy to electrical status epilepticus in sleep with reversible encephalopathy.

Neupert D, Abbassi P, Prange L, et al.

Epileptic disorders : international epilepsy journal with videotape 2022; (24(1)):183-190 doi:10.1684/epd.2021.1377.

Non-Stationary Outcome of Alternating Hemiplegia of Childhood into Adulthood.

Perulli M, Poole J, Di Lazzaro G, et al.

Movement disorders clinical practice 2022; (9(2)):206-211 doi:10.1002/mdc3.13388.

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.

Pavone P, Pappalardo XG, Mustafa N, et al.

Italian journal of pediatrics 2022; (48(1)):29 doi:10.1186/s13052-021-01194-2.

Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood.

Parker LE, Wallace K, Thevathasan A, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022; (38()):47-52 doi:10.1016/j.ejpn.2022.03.007.

[Alternating Hemiplegia of Childhood associated with a pathogenic variant of the ATP1A3 gene].

Sandoval F, López F

Andes pediatrica : revista Chilena de pediatria 2022; (93(1)):117-122 doi:10.32641/andespediatr.v93i1.3972.

Anesthetic Implications in Alternating Hemiplegia of Childhood: A Case Report.

Funk EM, Mikati MA, Landstrom AP, et al.

AANA journal 2022; (90(4)):297-302.

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.

Pavone P, Pappalardo XG, Ruggieri M, et al.

Medicine 2022; (101(31)):e29413 doi:10.1097/MD.0000000000029413.

Multiple sclerosis diagnostic delay and its associated factors in Upper Egyptian patients.

Khedr EM, El Malky I, Hussein HB, et al.

Scientific reports 2023; (13(1)):2249 doi:10.1038/s41598-023-28864-x.

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report.

Fonseca J, Melo C, Ferreira C, et al.

Journal of pediatric genetics 2023; (12(2)):155-158 doi:10.1055/s-0040-1722288.

ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids.

You Y, Zhang Z, Sultana N, et al.

Science advances 2023; (9(37)):eadi3647 doi:10.1126/sciadv.adi3647.

Alternating hemiplegia of childhood.

Ananthavarathan P, Kamourieh S

Handbook of clinical neurology 2023; (198()):221-227 doi:10.1016/B978-0-12-823356-6.00005-6.

Characteristics of non-sleep related apneas in children with alternating hemiplegia of childhood.

Thamby J, Prange L, Boggs A, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):101-108 doi:10.1016/j.ejpn.2023.12.002.

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Panagiotakaki E, Tiziano FD, Mikati MA, et al.

European journal of human genetics : EJHG 2024; (32(2)):224-231 doi:10.1038/s41431-023-01489-4.

Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.

Muthaffar OY, Alqarni A, Shafei JA, et al.

Genes & genomics 2024; (46(4)):475-487 doi:10.1007/s13258-023-01481-8.

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.

Wayhelova M, Vallova V, Broz P, et al.

Orphanet journal of rare diseases 2024; (19(1)):41 doi:10.1186/s13023-024-03056-6.

Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood.

Patel S, Maney K, Morris L, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (49()):55-59 doi:10.1016/j.ejpn.2024.02.004.

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

Rissardo JP, Vora NM, Singh Y, et al.

Rambam Maimonides medical journal 2024; (15(3)) doi:10.5041/RMMJ.10529.

Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.

Mertens A, Papadopoulou MT, Papathanasiou Terzi MA, et al.

Epileptic disorders : international epilepsy journal with videotape 2024; (26(6)):847-852 doi:10.1002/epd2.20272.

A case of alternating hemiplegia in 2-month-old children with nystagmus as the first symptom: A case report.

Qiao Q, Li Q

Medicine 2024; (103(39)):e39774 doi:10.1097/MD.0000000000039774.

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.

Li C, Wang Y, Zeng C, et al.

Scientific reports 2024; (14(1)):27590 doi:10.1038/s41598-024-79431-x.

Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes.

Hawkins NA, DeKeyser JM, Kearney JA, George AL

Neurobiology of disease 2024; (203()):106751 doi:10.1016/j.nbd.2024.106751.

Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln).

Alhaque S, Budinger D, Garavaglia B, et al.

Stem cell research 2025; (84()):103669 doi:10.1016/j.scr.2025.103669.

Critical Events in Patients With Alternating Hemiplegia of Childhood: A Cohort Study Subgroup Analysis.

Funk EM, Dear GL, Moya-Mendez ME, et al.

AANA journal 2025; (93(1)):19-29 doi:10.70278/AANAJ/.0000001028.

Na+/K+-ATPase: a multifunctional target in type 2 diabetes and pancreatic islets.

Mou L, Fu Z, Wang TB, et al.

Frontiers in immunology 2025; (16()):1555310 doi:10.3389/fimmu.2025.1555310.

Alternating hemiplegia of childhood misdiagnosed as hysteria: a case report.

Wei D, Lv K, He J, et al.

Acta epileptologica 2024; (6(1)):4 doi:10.1186/s42494-023-00148-x.

Ketogenic diet for alternating hemiplegia of childhood: Case report and literature review.

Yang Y, Liu P, Li P, et al.

Medicine 2025; (104(40)):e44993 doi:10.1097/MD.0000000000044993.

CRISPR-based prime editing improves therapeutic outcomes for childhood alternating hemiplegia.

Shen G, Liao Y, Lin P

Precision clinical medicine 2025; (8(4)):pbaf024 doi:10.1093/pcmedi/pbaf024.

Unraveling Alternating Hemiplegia of Childhood: A Case Report with Genetic and Clinical Insights.

Mahapatra S, Singh A, Das A, et al.

Case reports in neurology 2025; (17(1)):119-124 doi:10.1159/000548497.

RHOBTB2-Associated Neurological Phenotypes and Underlying Mechanisms: Alternating Hemiplegia of Childhood Beyond ATP1A3.

Kravljanac R, Klaassen K, Oparnica V, et al.

Diseases (Basel, Switzerland) 2026; (14(5)) doi:10.3390/diseases14050166.