Research & Literature

Abnormal cortical synaptic transmission in CaV2.1 knockin mice with the S218L missense mutation which causes a severe familial hemiplegic migraine syndrome in humans.

Vecchia D, Tottene A, van den Maagdenberg AM, Pietrobon D

Frontiers in cellular neuroscience 2015; (9()):8 doi:10.3389/fncel.2015.00008.

Migraine and epilepsy: review of the literature.

Nye BL, Thadani VM

Headache 2015; (55(3)):359-80 doi:10.1111/head.12536.

Dynamics of Ionic Shifts in Cortical Spreading Depression.

Enger R, Tang W, Vindedal GF, et al.

Cerebral cortex (New York, N.Y. : 1991) 2015; (25(11)):4469-76 doi:10.1093/cercor/bhv054.

Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura.

Blicher JU, Tietze A, Donahue MJ, et al.

Cephalalgia : an international journal of headache 2016; (36(3)):279-83 doi:10.1177/0333102415586064.

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.

Fan C, Wolking S, Lehmann-Horn F, et al.

Cephalalgia : an international journal of headache 2016; (36(13)):1238-1247 doi:10.1177/0333102415608360.

Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model.

Bøttger P, Glerup S, Gesslein B, et al.

Scientific reports 2016; (6()):22047 doi:10.1038/srep22047.

Clinical and electroencephalographic abnormalities during the full duration of a sporadic hemiplegic migraine attack.

Chastan N, Lebas A, Legoff F, et al.

Neurophysiologie clinique = Clinical neurophysiology 2016; (46(4-5)):307-311 doi:10.1016/j.neucli.2016.03.004.

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, et al.

Cephalalgia : an international journal of headache 2017; (37(8)):737-755 doi:10.1177/0333102416651284.

Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2.

Capuani C, Melone M, Tottene A, et al.

EMBO molecular medicine 2016; (8(8)):967-86 doi:10.15252/emmm.201505944.

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Camia F, Pisciotta L, Morana G, et al.

Cephalalgia : an international journal of headache 2017; (37(12)):1202-1206 doi:10.1177/0333102416668655.

Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation.

Martínez E, Moreno R, López-Mesonero L, et al.

Case reports in neurological medicine 2016; (2016()):3464285 doi:10.1155/2016/3464285.

Familial Hemiplegic Migraine With Asymmetric Encephalopathy Secondary to ATP1A2 Mutation: A Case Series.

Murphy OC, Merwick A, OʼMahony O, et al.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2018; (35(1)):e3-e7 doi:10.1097/WNP.0000000000000387.

Brain atrophy following hemiplegic migraine attacks.

Pelzer N, Hoogeveen ES, Ferrari MD, et al.

Cephalalgia : an international journal of headache 2018; (38(6)):1199-1202 doi:10.1177/0333102417723569.

Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment.

Indelicato E, Nachbauer W, Eigentler A, et al.

Cephalalgia : an international journal of headache 2018; (38(6)):1167-1176 doi:10.1177/0333102417715229.

Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation.

Pelzer N, Haan J, Stam AH, et al.

Neurology 2018; (90(7)):e575-e582 doi:10.1212/WNL.0000000000004966.

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, et al.

Cephalalgia : an international journal of headache 2018; (38(12)):1849-1863 doi:10.1177/0333102418761041.

Flunarizine in migraine-related headache prevention: results from 200 patients treated in the UK.

Karsan N, Palethorpe D, Rattanawong W, et al.

European journal of neurology 2018; (25(6)):811-817 doi:10.1111/ene.13621.

Time Course of Cerebral Perfusion Changes in Children with Migraine with Aura Mimicking Stroke.

Cobb-Pitstick KM, Munjal N, Safier R, et al.

AJNR. American journal of neuroradiology 2018; (39(9)):1751-1755 doi:10.3174/ajnr.A5693.

The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.

Indelicato E, Nachbauer W, Karner E, et al.

European journal of neurology 2019; (26(1)):66-e7 doi:10.1111/ene.13765.

Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2.

Roth C, Ferbert A, Huegens-Penzel M, et al.

Journal of the neurological sciences 2018; (392()):22-27 doi:10.1016/j.jns.2018.06.019.

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Angelini C, Van Gils J, Bigourdan A, et al.

European journal of medical genetics 2019; (62(6)):103530 doi:10.1016/j.ejmg.2018.08.011.

Episodic Migraine With and Without Aura: Key Differences and Implications for Pathophysiology, Management, and Assessing Risks.

Vgontzas A, Burch R

Current pain and headache reports 2018; (22(12)):78 doi:10.1007/s11916-018-0735-z.

Involvement of the Na+ ,K+ -ATPase isoforms in control of cerebral perfusion.

Staehr C, Rajanathan R, Matchkov VV

Experimental physiology 2019; (104(7)):1023-1028 doi:10.1113/EP087519.

Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine.

Rispoli MG, Di Stefano V, Mantuano E, De Angelis MV

BMJ case reports 2019; (12(10)) doi:10.1136/bcr-2019-231129.

Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review.

Du Y, Li C, Duan FJ, et al.

Neuropediatrics 2020; (51(3)):215-220 doi:10.1055/s-0039-3400986.

Familial Hemiplegic Migraine With Progressive Cerebellar Ataxia Caused by a p.Thr666Met CACNA1A Gene Mutation in a Chinese Family.

Li M, Zheng X, Zhong R, et al.

Frontiers in neurology 2019; (10()):1221 doi:10.3389/fneur.2019.01221.

Diagnostic and therapeutic aspects of hemiplegic migraine.

Di Stefano V, Rispoli MG, Pellegrino N, et al.

Journal of neurology, neurosurgery, and psychiatry 2020; (91(7)):764-771 doi:10.1136/jnnp-2020-322850.

Anti-migraine Calcitonin Gene-Related Peptide Receptor Antagonists Worsen Cerebral Ischemic Outcome in Mice.

Mulder IA, Li M, de Vries T, et al.

Annals of neurology 2020; (88(4)):771-784 doi:10.1002/ana.25831.

Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations, Not CAG Repeat Expansions.

Duque KR, Marsili L, Sturchio A, et al.

Cerebellum (London, England) 2021; (20(1)):134-139 doi:10.1007/s12311-020-01185-9.

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.

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

Antonaci F, Ravaglia S, Grieco GS, et al.

The journal of headache and pain 2021; (22(1)):12 doi:10.1186/s10194-021-01221-x.

R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report.

Stubberud A, O'Connor E, Tronvik E, et al.

Case reports in neurology 2021; (13(1)):123-130 doi:10.1159/000512275.

Specific activation of GluN1-N2B NMDA receptors underlies facilitation of cortical spreading depression in a genetic mouse model of migraine with reduced astrocytic glutamate clearance.

Crivellaro G, Tottene A, Vitale M, et al.

Neurobiology of disease 2021; (156()):105419 doi:10.1016/j.nbd.2021.105419.

Narrative review of neuroimaging in migraine with aura.

Arca KN, VanderPluym JH, Halker Singh RB

Headache 2021; (61(9)):1324-1333 doi:10.1111/head.14191.

CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.

Romozzi M, Primiano G, Rollo E, et al.

The journal of headache and pain 2021; (22(1)):85 doi:10.1186/s10194-021-01297-5.

[Familial hemiplegic migraine].

Starikova NL, Kulesh AA

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2021; (121(7)):114-117 doi:10.17116/jnevro2021121071114.

Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels.

Chever O, Zerimech S, Scalmani P, et al.

The Journal of clinical investigation 2021; (131(21)).

Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model.

Auffenberg E, Hedrich UB, Barbieri R, et al.

The Journal of clinical investigation 2021; (131(21)).

Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.

Riant F, Roos C, Roubertie A, et al.

Neurology 2022; (98(1)):e51-e61 doi:10.1212/WNL.0000000000012947.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brunklaus A, Brünger T, Feng T, et al.

Brain : a journal of neurology 2022; (145(11)):3816-3831 doi:10.1093/brain/awac210.

Migraine aura-like symptoms at onset of stroke and stroke-like symptoms in migraine with aura.

Scutelnic A, Kreis LA, Beyeler M, et al.

Frontiers in neurology 2022; (13()):1004058 doi:10.3389/fneur.2022.1004058.

Stroke-prone salt-sensitive spontaneously hypertensive rats show higher susceptibility to spreading depolarization (SD) and altered hemodynamic responses to SD.

Kang EJ, Prager O, Lublinsky S, et al.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2023; (43(2)):210-230 doi:10.1177/0271678X221135085.

The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.

Dai L, Ding C, Tian X, et al.

Brain & development 2023; (45(8)):422-431 doi:10.1016/j.braindev.2023.04.003.

Hemiplegic Migraine.

Nandyala A, Shah T, Ailani J

Current neurology and neuroscience reports 2023; (23(7)):381-387 doi:10.1007/s11910-023-01277-z.

Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study.

Mangano GD, Capizzi MR, Mantuano E, et al.

Headache 2023; (63(7)):889-898 doi:10.1111/head.14582.

Two pediatric patients with hemiplegic migraine presenting as acute encephalopathy: case reports and a literature review.

Xiang Y, Li F, Song Z, et al.

Frontiers in pediatrics 2023; (11()):1214837 doi:10.3389/fped.2023.1214837.

Pathophysiology of migraine aura.

Sanchez Del Rio M, Cutrer FM

Handbook of clinical neurology 2023; (198()):71-83 doi:10.1016/B978-0-12-823356-6.00016-0.

Hemiplegic migraine.

de Boer I, Hansen JM, Terwindt GM

Handbook of clinical neurology 2024; (199()):353-365 doi:10.1016/B978-0-12-823357-3.00015-X.

Familial hemiplegic migraine type 2: a case report of an adolescent with ATP1A2 mutation.

Zhang H, Jiang L, Xian Y, Yang S

Frontiers in neurology 2024; (15()):1339642 doi:10.3389/fneur.2024.1339642.

Familial hemiplegic migraine in Indian children-a tertiary center experience.

Saini L, Gunasekaran PK, Tiwari S, et al.

Journal of tropical pediatrics 2024; (70(3)) doi:10.1093/tropej/fmae008.

Treatment of CACNA1A Encephalopathy and Cerebral Edema with Magnesium and Dexamethasone.

Turner C, Campbell L, Fung R, et al.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2024; 1-4 doi:10.1017/cjn.2024.52.

Familial hemiplegic migraine.

Villar-Martinez MD, Moreno-Ajona D, Goadsby PJ

Handbook of clinical neurology 2024; (203()):135-144 doi:10.1016/B978-0-323-90820-7.00007-0.

A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene.

Guan DM, Shan YZ, Zhao HT, et al.

Pharmacogenomics and personalized medicine 2024; (17()):437-442 doi:10.2147/PGPM.S473335.

Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series.

Sottani C, Di Lazzaro G, Calabresi P, et al.

Headache 2025; (65(2)):377-381 doi:10.1111/head.14840.

Clinical characterization of a novel ATP1A2 p.Gly615Glu mutation in nine family members with familial hemiplegic migraine.

Romozzi M, Spartano S, L'Erario FF, et al.

Brain communications 2025; (7(1)):fcae447 doi:10.1093/braincomms/fcae447.

Gene-Based Burden Testing of Rare Variants in Hemiplegic Migraine: A Computational Approach to Uncover the Genetic Architecture of a Rare Brain Disorder.

Alfayyadh MM, Maksemous N, Sutherland HG, et al.

Genes 2025; (16(7)) doi:10.3390/genes16070807.

EEG patterns in each phase of hemiplegic migraine: a systematic review and pooled prevalence meta-analysis.

Kedgan P, Anukoolwittaya P, Surawattanawong T, et al.

The journal of headache and pain 2025; (26(1)):213 doi:10.1186/s10194-025-02150-9.

From Stroke Suspicion to Genetic Confirmation: Familial Hemiplegic Migraine Type 2 as a Rare Stroke Mimic With Persistent Hemiplegia.

Haggag M, Hussaini S, Shehabeldein A, Muhammad S

Cureus 2025; (17(9)):e93313 doi:10.7759/cureus.93313.

Mechanisms underlying the increased susceptibility to initiation of cortical spreading depression in a genetic mouse model of migraine.

Vitale M, Tottene A, Zadeh MZ, Pietrobon D

The journal of headache and pain 2025; (26(1)):256 doi:10.1186/s10194-025-02139-4.

Effectiveness and safety of anti-CGRP monoclonal antibodies in hemiplegic migraine: an individual patient quantitative analysis.

Romozzi M, Palermo M, Danno D, et al.

The journal of headache and pain 2026; (27(1)).

Dissociated neurovascular dynamics in ATP1A2-related familial hemiplegic migraine mimicking acute ischemic stroke.

Lee GH, Kim J, Cho JW

BMC neurology 2026; (26(1)).

[Hemiplegic migraine: from historical perspectives to current management].

Shibata M, Saigoh K, Danno D, et al.

Rinsho shinkeigaku = Clinical neurology 2026; (66(6)):375-383 doi:10.5692/clinicalneurol.cn-002244.

Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients.

Zielke T, Sutherland HG, Maksemous N, et al.

Biomedicines 2026; (14(5)) doi:10.3390/biomedicines14050954.

Clinical and Radiological Variability in Episodic Ataxia Type 2: A Case Report and Review of the Literature.

Ortiz JF, Japon AG, Lopez CD, Lannen NJ

Cerebellum (London, England) 2026; (25(4)).

When Hemiplegic Migraine Defies Expectations: Diagnostic Complexity in a Rare Genetic Disorder.

Goossens A, Delabie AL, Demaret T, et al.

Case reports in neurology 2026; (18(1)):514-520 doi:10.1159/000553486.