Research & Literature

Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.

Wada T, Takano K, Tsurusaki Y, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2015; (57(2)):324-6 doi:10.1111/ped.12613.

Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.

Multani N, Moro E, Lang A, et al.

Neurocase 2016; (22(2)):215-9 doi:10.1080/13554794.2015.1120312.

Psychiatric disorders, myoclonus dystonia and SGCE: an international study.

Peall KJ, Dijk JM, Saunders-Pullman R, et al.

Annals of clinical and translational neurology 2016; (3(1)):4-11 doi:10.1002/acn3.263.

Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).

Rachad L, El Kadmiri N, Slassi I, et al.

Molecular neurobiology 2017; (54(2)):939-942 doi:10.1007/s12035-016-9712-x.

Myoclonus: Pathophysiology and Treatment Options.

Levy A, Chen R

Current treatment options in neurology 2016; (18(5)):21 doi:10.1007/s11940-016-0404-7.

A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia.

Hainque E, Vidailhet M, Cozic N, et al.

Neurology 2016; (86(18)):1729-35 doi:10.1212/WNL.0000000000002631.

Speech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus-Dystonia Syndrome.

Isaacs DA, Hedera P

Tremor and other hyperkinetic movements (New York, N.Y.) 2016; (6()):405 doi:10.7916/D8J966FP.

Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up.

Fernández-Pajarín G, Sesar A, Relova JL, et al.

Acta neurochirurgica 2016; (158(10)):2023-8 doi:10.1007/s00701-016-2904-3.

Myoclonus-dystonia syndrome: case report.

Akarsu EO, Surmeli R, Yalcin D

Northern clinics of Istanbul 2014; (1(3)):187-190 doi:10.14744/nci.2014.28247.

Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11.

Wang JW, Li JP, Wang YP, et al.

Scientific reports 2017; (7()):41042 doi:10.1038/srep41042.

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.

Grütz K, Seibler P, Weissbach A, et al.

Scientific reports 2017; (7()):41156 doi:10.1038/srep41156.

Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation.

Weissbach A, Werner E, Bally JF, et al.

Annals of neurology 2017; (82(4)):543-553 doi:10.1002/ana.25035.

Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment.

Roze E, Lang AE, Vidailhet M

Current opinion in neurology 2018; (31(4)):484-490 doi:10.1097/WCO.0000000000000577.

Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment.

Kosutzka Z, Tisch S, Bonnet C, et al.

Movement disorders : official journal of the Movement Disorder Society 2019; (34(1)):87-94 doi:10.1002/mds.27474.

Thalamus Stimulation for Myoclonus Dystonia Syndrome: Five Cases and Long-Term Follow-up.

Zhang YQ, Wang JW, Wang YP, et al.

World neurosurgery 2019; (122()):e933-e939 doi:10.1016/j.wneu.2018.10.177.

Psychiatric and Behavioral Complications of GPi DBS in an Adolescent with Myoclonus Dystonia.

Kriegel G, Stuckey MI

Case reports in psychiatry 2019; (2019()):1947962 doi:10.1155/2019/1947962.

A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia.

Gultekin M, Prakash N, Ganos C, et al.

Movement disorders clinical practice 2019; (6(6)):479-482 doi:10.1002/mdc3.12805.

[Zonisamide treatment in myoclonus-dystonia].

Salamon A, Zádori D, Horváth E, et al.

Orvosi hetilap 2019; (160(34)):1353-1357 doi:10.1556/650.2019.31472.

Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction.

Menozzi E, Balint B, Latorre A, et al.

Movement disorders : official journal of the Movement Disorder Society 2019; (34(11)):1588-1601 doi:10.1002/mds.27822.

Myoclonus-dystonia: Distinctive motor and non-motor phenotype from other dystonia syndromes.

Timmers ER, Smit M, Kuiper A, et al.

Parkinsonism & related disorders 2019; (69()):85-90 doi:10.1016/j.parkreldis.2019.10.015.

Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data.

Wang X, Yu X

Neurosurgical review 2021; (44(1)):451-462 doi:10.1007/s10143-019-01233-x.

Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation.

Kaczyńska J, Jamrozik Z, Szubiga M, et al.

Neurologia i neurochirurgia polska 2020; (54(1)):33-38 doi:10.5603/PJNNS.a2020.0005.

[Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].

Tian XJ, Ding CH, Zhang YH, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2020; (58(2)):123-128 doi:10.3760/cma.j.issn.0578-1310.2020.02.011.

KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.

Balint B, Guerreiro R, Carmona S, et al.

European journal of neurology 2020; (27(8)):1471-1477 doi:10.1111/ene.14228.

Medical management of myoclonus-dystonia and implications for underlying pathophysiology.

Fearon C, Peall KJ, Vidailhet M, Fasano A

Parkinsonism & related disorders 2020; (77()):48-56 doi:10.1016/j.parkreldis.2020.06.016.

KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset.

Todisco M, Gana S, Cosentino G, et al.

Parkinsonism & related disorders 2020; (78()):129-133 doi:10.1016/j.parkreldis.2020.07.026.

A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability.

Delgado-Alvarado M, Matilla-Dueñas A, Altadill-Bermejo A, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(12)):3779-3781 doi:10.1007/s10072-020-04718-6.

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.

Vanegas MI, Marcé-Grau A, Martí-Sánchez L, et al.

Parkinsonism & related disorders 2020; (80()):165-174 doi:10.1016/j.parkreldis.2020.09.023.

Population Prevalence of Deleterious SGCE Variants.

LeDoux MS

Tremor and other hyperkinetic movements (New York, N.Y.) 2020; (10()):50 doi:10.5334/tohm.567.

Mutation in ε-Sarcoglycan Induces a Myoclonus-Dystonia Syndrome-Like Movement Disorder in Mice.

Li J, Liu Y, Li Q, et al.

Neuroscience bulletin 2021; (37(3)):311-322 doi:10.1007/s12264-020-00612-5.

Long-term effects of pallidal and thalamic deep brain stimulation in myoclonus dystonia.

Krause P, Koch K, Gruber D, et al.

European journal of neurology 2021; (28(5)):1566-1573 doi:10.1111/ene.14737.

Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene.

Sobstyl M, Stapińska-Syniec A, Zaremba J, et al.

Neuromodulation : journal of the International Neuromodulation Society 2022; (25(6)):918-924 doi:10.1111/ner.13362.

ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.

Cazurro-Gutiérrez A, Marcé-Grau A, Correa-Vela M, et al.

Molecular neurobiology 2021; (58(8)):3938-3952 doi:10.1007/s12035-021-02391-0.

Understanding Psychiatric Disorders in Idiopathic and Inherited (Monogenic) Forms of Isolated and Combined Dystonia: A Systematic Review.

Lane V, Lane M, Sturrock A, Rickards H

The Journal of neuropsychiatry and clinical neurosciences 2021; (33(4)):295-306 doi:10.1176/appi.neuropsych.20110293.

A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report.

de Leon MAJ, Rosales RL, Klein C, Westenberger A

BMC neurology 2022; (22(1)):11 doi:10.1186/s12883-021-02530-z.

Early recognition of SGCE-myoclonus-dystonia in children.

Correa-Vela M, Carvalho J, Ferrero-Turrion J, et al.

Developmental medicine and child neurology 2023; (65(2)):207-214 doi:10.1111/dmcn.15298.

A Japanese family with dystonia due to a pathogenic variant in SGCE.

Morikawa T, Miura S, Fan L, et al.

Human genome variation 2022; (9(1)):29 doi:10.1038/s41439-022-00207-8.

A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia.

Higinbotham AS, DeBrosse SD, Kilbane CW

Tremor and other hyperkinetic movements (New York, N.Y.) 2023; (13()):24 doi:10.5334/tohm.783.

Novel SGCE Mutation in a Patient With Myoclonus-Dystonia: A Case Report.

Klinman E, Gooch C, Perlmutter JS, et al.

Neurology. Genetics 2024; (10(2)):e200128 doi:10.1212/NXG.0000000000200128.

Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex.

Tarrano C, Galléa C, Delorme C, et al.

Scientific reports 2024; (14(1)):22341 doi:10.1038/s41598-024-73386-9.

Natural history of SGCE-associated myoclonus dystonia in children and adolescents.

De Francesch V, Cazurro-Gutiérrez A, Timmers ER, et al.

Developmental medicine and child neurology 2025; (67(6)):740-749 doi:10.1111/dmcn.16214.

Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.

Alghamdi MA, Hamad MH, Alghamdi I, et al.

American journal of medical genetics. Part A 2025; (197(5)):e63964 doi:10.1002/ajmg.a.63964.

Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes.

De Francesch V, Cazurro-Gutiérrez A, Timmers ER, et al.

Developmental medicine and child neurology 2025; (67(6)):e104-e114 doi:10.1111/dmcn.16215.

Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.

Vanegas MI, Marcé-Grau A, Cazurro-Gutiérrez A, et al.

Movement disorders clinical practice 2025; (12(7)):957-968 doi:10.1002/mdc3.70028.

Sex-specific alterations of Purkinje cell firing in Sgce knockout mice and correlations with myoclonus.

Xing H, Girdhar P, Yokoi F, Li Y

Dystonia (Lausanne, Switzerland) 2025; (4()) doi:10.3389/dyst.2025.14415.

SGCE Myoclonus Dystonia: A Case Report.

Deginet E, Tewoflos M, Abebe YN

Ethiopian journal of health sciences 2025; (35(3)):222-224 doi:10.4314/ejhs.v35i3.11.

Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.

Salazar-Villacorta A, Cazurro-Gutiérrez A, Dougherty-de Miguel L, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(10)):2234-2242 doi:10.1002/mds.30309.

From SGCE gene to symptoms: decoding myoclonus-dystonia.

Peng X, Lei X, Yang L, He D

Acta neurologica Belgica 2025; doi:10.1007/s13760-025-02935-4.

Divergent Cerebello-Cortical Network Responses to Emotional Stress in Myoclonus Dystonia.

Tarrano C, Galléa C, Gomes M, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; (41(4)):937-947 doi:10.1002/mds.70159.

Infantile Epsilon-Sarcoglycan (SGCE) Myoclonus-Dystonia: Diagnostic Pitfalls and Poor Response to Pharmacologic Treatment.

Pissarra R, Dias L, Sousa R, Melo C

Cureus 2025; (17(12)):e100342 doi:10.7759/cureus.100342.

Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia.

Krygier M, Sitek EJ, Chylińska M, et al.

Frontiers in neurology 2026; (17()):1728361 doi:10.3389/fneur.2026.1728361.