Research & Literature

Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members.

Kaido M, Furuta M, Nakamori M, et al.

Rinsho shinkeigaku = Clinical neurology 2016; (56(4)):260-4 doi:10.5692/clinicalneurol.cn-000854.

Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.

Maksemous N, Roy B, Smith RA, Griffiths LR

Molecular genetics & genomic medicine 2016; (4(2)):211-22 doi:10.1002/mgg3.196.

Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.

Tristán-Clavijo E, Scholl FG, Macaya A, et al.

Movement disorders : official journal of the Movement Disorder Society 2016; (31(11)):1743-1748 doi:10.1002/mds.26737.

Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.

Pradotto L, Mencarelli M, Bigoni M, et al.

Journal of the neurological sciences 2016; (371()):81-84 doi:10.1016/j.jns.2016.10.029.

Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.

Balck A, Hanssen H, Hellenbroich Y, et al.

Journal of neurology 2017; (264(7)):1520-1522 doi:10.1007/s00415-017-8494-z.

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.

Imbrici P, Altamura C, Gualandi F, et al.

Molecular and cellular neurosciences 2017; (83()):6-12 doi:10.1016/j.mcn.2017.06.006.

Genetic Variants Associated with Episodic Ataxia in Korea.

Choi KD, Kim JS, Kim HJ, et al.

Scientific reports 2017; (7(1)):13855 doi:10.1038/s41598-017-14254-7.

Episodic ataxias.

Jen JC, Wan J

Handbook of clinical neurology 2018; (148()):521-529 doi:10.1016/B978-0-444-64076-5.00033-8.

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.

Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.

Zima L, Ceulemans S, Reiner G, et al.

Annals of clinical and translational neurology 2018; (5(8)):996-1010 doi:10.1002/acn3.597.

Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I.

Karalok ZS, Megaro A, Cenciarini M, et al.

Frontiers in neurology 2018; (9()):587 doi:10.3389/fneur.2018.00587.

A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine.

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

Intractable & rare diseases research 2019; (8(1)):67-71 doi:10.5582/irdr.2018.01133.

Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies.

El Achkar CM, Rosen Sheidley B, O'Rourke D, et al.

Epilepsy & behavior case reports 2019; (11()):125-128 doi:10.1016/j.ebcr.2016.12.001.

From non-excitable single-cell to multicellular bioelectrical states supported by ion channels and gap junction proteins: Electrical potentials as distributed controllers.

Cervera J, Pai VP, Levin M, Mafe S

Progress in biophysics and molecular biology 2019; (149()):39-53 doi:10.1016/j.pbiomolbio.2019.06.004.

Impact of 4-aminopyridine on vestibulo-ocular reflex performance.

I Gusti Bagus M, Gordy C, Sanchez-Gonzalez R, et al.

Journal of neurology 2019; (266(Suppl 1)):93-100 doi:10.1007/s00415-019-09452-4.

Episodic Ataxia Secondary to CEP290 Compound Heterozygous Mutations: A Case Report.

Hamed M, Shetty A, Dzwiniel T, et al.

Movement disorders clinical practice 2020; (7(1)):104-106 doi:10.1002/mdc3.12872.

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.

Piarroux J, Riant F, Humbertclaude V, et al.

Annals of clinical and translational neurology 2020; (7(4)):565-572 doi:10.1002/acn3.51005.

Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder.

Gauquelin L, Hawkins C, Tam EWY, et al.

Neurology 2020; (94(14)):631-634 doi:10.1212/WNL.0000000000009223.

Ion channelopathies to bridge molecular lesions, channel function, and clinical therapies.

Carbone E, Mori Y

Pflugers Archiv : European journal of physiology 2020; (472(7)):733-738 doi:10.1007/s00424-020-02424-y.

Kinesigenic Triggers in Episodic Ataxia Type 1.

de Gusmao CM, Garcia LR, Jesuthasan A, et al.

Movement disorders clinical practice 2020; (7(6)):723-724 doi:10.1002/mdc3.13008.

A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.

Zhao J, Petitjean D, Haddad GA, et al.

International journal of molecular sciences 2020; (21(20)) doi:10.3390/ijms21207602.

Anticipatory anxiety of epileptic seizures: An overlooked dimension linked to trauma history.

Ertan D, Hubert-Jacquot C, Maillard L, et al.

Seizure 2021; (85()):64-69 doi:10.1016/j.seizure.2020.12.006.

A case of novel CACNA1A mutation causing type 2 episodic ataxia.

Idiculla PS, Siddiqui JH

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021; (42(6)):2577-2578 doi:10.1007/s10072-021-05059-8.

Epilepsy and episodic ataxia type 2: family study and review of the literature.

Verriello L, Pauletto G, Nilo A, et al.

Journal of neurology 2021; (268(11)):4296-4302 doi:10.1007/s00415-021-10555-0.

Fampridine and Acetazolamide in EA2 and Related Familial EA: A Prospective Randomized Placebo-Controlled Trial.

Muth C, Teufel J, Schöls L, et al.

Neurology. Clinical practice 2021; (11(4)):e438-e446 doi:10.1212/CPJ.0000000000001017.

Electrodiagnostic Assessment of Hyperexcitable Nerve Disorders.

Hutto SK, Harrison TB

Neurologic clinics 2021; (39(4)):1083-1096 doi:10.1016/j.ncl.2021.06.009.

Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.

Miceli F, Guerrini R, Nappi M, et al.

Epilepsia 2022; (63(1)):e7-e14 doi:10.1111/epi.17118.

Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy.

Amadori E, Pellino G, Bansal L, et al.

European journal of medical genetics 2022; (65(4)):104450 doi:10.1016/j.ejmg.2022.104450.

Mechanism of stress-induced attacks in an episodic neurologic disorder.

Snell HD, Vitenzon A, Tara E, et al.

Science advances 2022; (8(16)):eabh2675 doi:10.1126/sciadv.abh2675.

Episodic Ataxia Type 1: Natural History and Effect on Quality of Life.

Graves TD, Griggs RC, Bundy BN, et al.

Cerebellum (London, England) 2023; (22(4)):578-586 doi:10.1007/s12311-021-01360-6.

A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia.

Tedesco Silva LM, Sharma S, Schrauwen I, et al.

Cerebellum (London, England) 2023; (22(5)):1029-1033 doi:10.1007/s12311-022-01458-5.

Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.

Wong-Spracklen VMY, Kolesnik A, Eck J, et al.

American journal of medical genetics. Part A 2022; (188(11)):3306-3311 doi:10.1002/ajmg.a.62960.

Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.

Nielsen EN, Ásbjörnsdóttir B, Møller LB, et al.

Cold Spring Harbor molecular case studies 2022; (8(6)) doi:10.1101/mcs.a006236.

Vertical Saccadic Slowing in Episodic Ataxia Type 2.

Kim S, Kim S, Lee S, Kim HJ

Journal of clinical neurology (Seoul, Korea) 2022; (18(6)):726-728 doi:10.3988/jcn.2022.18.6.726.

Anxiety Disorders: A Review.

Szuhany KL, Simon NM

JAMA 2022; (328(24)):2431-2445 doi:10.1001/jama.2022.22744.

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.

Hassan A

Tremor and other hyperkinetic movements (New York, N.Y.) 2023; (13()):9 doi:10.5334/tohm.747.

kcna1a mutant zebrafish model episodic ataxia type 1 (EA1) with epilepsy and show response to first-line therapy carbamazepine.

Dogra D, Meza-Santoscoy PL, Gavrilovici C, et al.

Epilepsia 2023; (64(8)):2186-2199 doi:10.1111/epi.17659.

Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia.

Huang H, Shakkottai VG

Life (Basel, Switzerland) 2023; (13(6)) doi:10.3390/life13061350.

The manifestations of metabolic acidosis during acetazolamide treatment in a cohort of pediatric idiopathic intracranial hypertension.

Bulkowstein Y, Nitzan-Luques A, Schnapp A, et al.

Pediatric nephrology (Berlin, Germany) 2024; (39(1)):185-191 doi:10.1007/s00467-023-06084-9.

Lipids shape brain function through ion channel and receptor modulations: physiological mechanisms and clinical perspectives.

Incontro S, Musella ML, Sammari M, et al.

Physiological reviews 2025; (105(1)):137-207 doi:10.1152/physrev.00004.2024.

The episodic ataxias.

Graves TD, Snell HD, Khodakhah K, et al.

Handbook of clinical neurology 2024; (203()):123-133 doi:10.1016/B978-0-323-90820-7.00012-4.

Adverse Events and Efficacy of Acetazolamide in Meniere's Disease in a Vertigo Outpatient Clinic: A Retrospective Study.

Kamogashira T, Asakura S, Funayama H, Ishimoto S

Cureus 2024; (16(9)):e69616 doi:10.7759/cureus.69616.

Phenotypic variability in cases with CACNA1A mutation.

Bozkaya-Yilmaz S, Olgac-Dundar N, Aliyeva N, et al.

European journal of pediatrics 2025; (184(4)):261 doi:10.1007/s00431-025-06062-3.

Acetazolamide-Induced Liver Injury: A Case Report and Literature Review.

Mohiuddin A, Hussain F, Al-Ramadan A, Lilley KK

Cureus 2025; (17(3)):e80536 doi:10.7759/cureus.80536.

Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study.

Chinigioli M, Martí-Sanchez L, Yubero D, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2025; (60()):50-57 doi:10.1016/j.ejpn.2025.11.005.