Research & Literature

Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis.

Shen Y, Ge WP, Li Y, et al.

Proceedings of the National Academy of Sciences of the United States of America 2015; (112(10)):2935-41 doi:10.1073/pnas.1501364112.

Treatment of paroxysmal dyskinesias in children.

Mink JW

Current treatment options in neurology 2015; (17(6)):350 doi:10.1007/s11940-015-0350-9.

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Hully M, Vuillaumier-Barrot S, Le Bizec C, et al.

European journal of medical genetics 2015; (58(9)):443-54.

New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

D'Adamo MC, Hasan S, Guglielmi L, et al.

Frontiers in cellular neuroscience 2015; (9()):317 doi:10.3389/fncel.2015.00317.

Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.

Huang XJ, Wang T, Wang JL, et al.

Neurology 2015; (85(18)):1546-53 doi:10.1212/WNL.0000000000002079.

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Gardella E, Becker F, Møller RS, et al.

Annals of neurology 2016; (79(3)):428-36 doi:10.1002/ana.24580.

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.

Bahamonde MI, Serra SA, Drechsel O, et al.

PloS one 2015; (10(12)):e0146035 doi:10.1371/journal.pone.0146035.

PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.

Valente P, Castroflorio E, Rossi P, et al.

Cell reports 2016; (15(1)):117-131 doi:10.1016/j.celrep.2016.03.005.

Atypical Manifestations in Glut1 Deficiency Syndrome.

De Giorgis V, Varesio C, Baldassari C, et al.

Journal of child neurology 2016; (31(9)):1174-80 doi:10.1177/0883073816650033.

Movement Disorders Presenting in Childhood.

Kurian MA, Dale RC

Continuum (Minneapolis, Minn.) 2016; (22(4 Movement Disorders)):1159-85 doi:10.1212/CON.0000000000000367.

Paroxysmal movement disorders: An update.

Méneret A, Roze E

Revue neurologique 2016; (172(8-9)):433-445 doi:10.1016/j.neurol.2016.07.005.

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.

Garone C, Gurgel-Giannetti J, Sanna-Cherchi S, et al.

Journal of child neurology 2017; (32(2)):246-250 doi:10.1177/0883073816666221.

A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.

Diomedi M, Gan-Or Z, Placidi F, et al.

European journal of medical genetics 2016; (59(11)):564-568 doi:10.1016/j.ejmg.2016.10.003.

Complications During Ketogenic Diet Initiation: Prevalence, Treatment, and Influence on Seizure Outcomes.

Lin A, Turner Z, Doerrer SC, et al.

Pediatric neurology 2017; (68()):35-39 doi:10.1016/j.pediatrneurol.2017.01.007.

Classification of involuntary movements in dogs: Paroxysmal dyskinesias.

Lowrie M, Garosi L

Veterinary journal (London, England : 1997) 2017; (220()):65-71 doi:10.1016/j.tvjl.2016.12.017.

Secondary paroxysmal dyskinesia in multiple sclerosis: Clinical-radiological features and treatment. Case report of seven patients.

Ciampi E, Uribe-San-Martín R, Godoy-Santín J, et al.

Multiple sclerosis (Houndmills, Basingstoke, England) 2017; (23(13)):1791-1795 doi:10.1177/1352458517702968.

Clinical characteristics and PRRT2 gene mutation analysis of sporadic patients with paroxysmal kinesigenic dyskinesia in China.

Zhang Y, Li L, Chen W, et al.

Clinical neurology and neurosurgery 2017; (159()):25-28 doi:10.1016/j.clineuro.2017.05.004.

Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients.

Tian WT, Huang XJ, Liu XL, et al.

Chinese medical journal 2017; (130(17)):2088-2094 doi:10.4103/0366-6999.213431.

[Diagnosis of non-epileptic paroxysmal disorders and epileptic seizures].

Noachtar S, Güldiken B

Der Nervenarzt 2017; (88(10)):1109-1118 doi:10.1007/s00115-017-0397-9.

[Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia].

Zhu XM, Gong YH, Lu S, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2017; (19(11)):1169-1173.

Rethinking status dystonicus.

Ruiz-Lopez M, Fasano A

Movement disorders : official journal of the Movement Disorder Society 2017; (32(12)):1667-1676 doi:10.1002/mds.27207.

Children's experiences of congenital heart disease: a systematic review of qualitative studies.

Chong LSH, Fitzgerald DA, Craig JC, et al.

European journal of pediatrics 2018; (177(3)):319-336 doi:10.1007/s00431-017-3081-y.

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.

Fruscione F, Valente P, Sterlini B, et al.

Brain : a journal of neurology 2018; (141(4)):1000-1016 doi:10.1093/brain/awy051.

Psychiatric and Psychological Impact of Chronic Skin Disease.

Jafferany M, Pastolero P

The primary care companion for CNS disorders 2018; (20(2)).

Identifying key components for a psychological intervention for people with vitiligo - a quantitative and qualitative study in the United Kingdom using web-based questionnaires of people with vitiligo and healthcare professionals.

Ahmed A, Steed L, Burden-Teh E, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2018; (32(12)):2275-2283 doi:10.1111/jdv.15168.

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.

Paroxysmal Dyskinesia in Children: from Genes to the Clinic.

Kim SY, Lee JS, Kim WJ, et al.

Journal of clinical neurology (Seoul, Korea) 2018; (14(4)):492-497 doi:10.3988/jcn.2018.14.4.492.

Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.

Castellotti B, Ragona F, Freri E, et al.

Journal of neurology 2019; (266(6)):1439-1448 doi:10.1007/s00415-019-09280-6.

Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related disease.

Balint B, Stephen CD, Udani V, et al.

Movement disorders clinical practice 2019; (6(4)):312-315 doi:10.1002/mdc3.12747.

Paroxysmal movement disorders - practical update on diagnosis and management.

De Gusmao CM, Silveira-Moriyama L

Expert review of neurotherapeutics 2019; (19(9)):807-822 doi:10.1080/14737175.2019.1648211.

Glucose transporter type 1 deficiency syndrome and the ketogenic diet.

Schwantje M, Verhagen LM, van Hasselt PM, Fuchs SA

Journal of inherited metabolic disease 2020; (43(2)):216-222 doi:10.1002/jimd.12175.

Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine.

Pan G, Zhang L, Zhou S

BMC pediatrics 2019; (19(1)):439 doi:10.1186/s12887-019-1798-7.

Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.

Gardella E, Møller RS

Epilepsia 2019; (60 Suppl 3()):S77-S85 doi:10.1111/epi.16319.

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Lu Q, Shang L, Tian WT, et al.

Annals of translational medicine 2020; (8(1)):8 doi:10.21037/atm.2019.11.31.

Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.

Panagiotakaki E, Doummar D, Nogue E, et al.

Neurology 2020; (94(13)):e1378-e1385 doi:10.1212/WNL.0000000000009175.

Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.

Yang L, You C, Qiu S, et al.

Brain and behavior 2020; (10(5)):e01597 doi:10.1002/brb3.1597.

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Garone G, Capuano A, Travaglini L, et al.

International journal of molecular sciences 2020; (21(10)) doi:10.3390/ijms21103603.

Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.

Balagura G, Riva A, Marchese F, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020; (28()):193-197 doi:10.1016/j.ejpn.2020.06.005.

Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.

Yuan H, Yuan H, Wang Q, et al.

Molecular genetics & genomic medicine 2020; (8(10)):e1434 doi:10.1002/mgg3.1434.

The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome.

Takahashi S, Tanaka R, Takeguchi R, et al.

Journal of the neurological sciences 2020; (416()):117041 doi:10.1016/j.jns.2020.117041.

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.

Klepper J, Akman C, Armeno M, et al.

Epilepsia open 2020; (5(3)):354-365 doi:10.1002/epi4.12414.

[Clinical characteristics and ketogenic diet therapy of glucose transporter type 1 deficiency syndrome in children: a multicenter clinical study].

Yu LF, Zhang YQ, Duan J, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2020; (58(11)):881-886 doi:10.3760/cma.j.cn112140-20200822-00819.

Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E.

Buckley C, Williams J, Munteanu T, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2020; (10()):49 doi:10.5334/tohm.549.

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.

Zhang L, Wen Y, Zhang Q, et al.

Frontiers in pediatrics 2020; (8()):577544 doi:10.3389/fped.2020.577544.

Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.

Bourque DK, Cordeiro D, Nimmo GAM, et al.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2021; (48(6)):826-830 doi:10.1017/cjn.2021.3.

A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review.

Yu M, Miao J, Lv Y, et al.

Frontiers in neurology 2020; (11()):549331 doi:10.3389/fneur.2020.549331.

Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases.

Ruiz Herrero J, Cañedo Villarroya E, González Gutiérrez-Solana L, et al.

Nutrients 2021; (13(3)) doi:10.3390/nu13030840.

Evaluation of E-Health Applications for Paediatric Patients with Refractory Epilepsy and Maintained on Ketogenic Diet.

Costa AM, Marchiò M, Bruni G, et al.

Nutrients 2021; (13(4)) doi:10.3390/nu13041240.

Genetic updates on paroxysmal dyskinesias.

Liao JY, Salles PA, Shuaib UA, Fernandez HH

Journal of neural transmission (Vienna, Austria : 1996) 2021; (128(4)):447-471 doi:10.1007/s00702-021-02335-x.

Paroxysmal Movement Disorders.

Harvey S, King MD, Gorman KM

Frontiers in neurology 2021; (12()):659064 doi:10.3389/fneur.2021.659064.

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.

Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome.

Logel SN, Connor EL, Hsu DA, et al.

Annals of clinical and translational neurology 2021; (8(11)):2205-2209 doi:10.1002/acn3.51462.

The Clinical Value of Patient Home Videos in Movement Disorders.

Billnitzer A, Jankovic J

Tremor and other hyperkinetic movements (New York, N.Y.) 2021; (11()):37 doi:10.5334/tohm.651.

Kinesigenic dyskinesias after ENT surgery misdiagnosed as focal epilepsy.

Trapp SD, Noachtar S, Kaufmann E

BMJ case reports 2022; (15(3)) doi:10.1136/bcr-2021-247760.

Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation.

Deng Y, Xu J, Yao C, et al.

Pediatric investigation 2022; (6(1)):11-15 doi:10.1002/ped4.12308.

PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia.

Xu K, Huang SS, Yue DY, et al.

Current medical science 2022; (42(2)):280-285 doi:10.1007/s11596-022-2583-7.

One Molecule for Mental Nourishment and More: Glucose Transporter Type 1-Biology and Deficiency Syndrome.

Vulturar R, Chiș A, Pintilie S, et al.

Biomedicines 2022; (10(6)) doi:10.3390/biomedicines10061249.

An in vitro model of glucose transporter 1 deficiency syndrome at the blood-brain barrier using induced pluripotent stem cells.

Pervaiz I, Zahra FT, Mikelis CM, Al-Ahmad AJ

Journal of neurochemistry 2022; (162(6)):483-500 doi:10.1111/jnc.15684.

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.

Peters TMA, Merx J, Kooijman PC, et al.

Journal of inherited metabolic disease 2023; (46(1)):66-75 doi:10.1002/jimd.12554.

Ataxia in Neurometabolic Disorders.

Kaminiów K, Ryguła I, Paprocka J

Metabolites 2022; (13(1)) doi:10.3390/metabo13010047.

Genetic Links to Episodic Movement Disorders: Current Insights.

Garg D, Mohammad S, Shukla A, Sharma S

The application of clinical genetics 2023; (16()):11-30 doi:10.2147/TACG.S363485.

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.

Non-epileptic paroxysmal events at pediatric video-electroencephalography monitoring unit over a 15-year period.

Yavuz P, Gunbey C, Karahan S, et al.

Seizure 2023; (108()):89-95 doi:10.1016/j.seizure.2023.04.016.

Long-term follow-up of nutritional status in children with GLUT1 Deficiency Syndrome treated with classic ketogenic diet: a 5-year prospective study.

De Amicis R, Leone A, Pellizzari M, et al.

Frontiers in nutrition 2023; (10()):1148960 doi:10.3389/fnut.2023.1148960.

Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review.

Olszewska DA, Shetty A, Rajalingam R, et al.

European journal of neurology 2023; (30(10)):3377-3393 doi:10.1111/ene.15969.

Paroxysmal movement disorders: Paroxysmal dyskinesia and episodic ataxia.

Erro R, Magrinelli F, Bhatia KP

Handbook of clinical neurology 2023; (196()):347-365 doi:10.1016/B978-0-323-98817-9.00033-8.

[A case of a pathological variant of the PRRT2 gene in twins with paroxysmal kinesiogenic dyskinesia].

Ermolenko NA, Krasnorutskaya ON, Bykova VA, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2023; (123(9. Vyp. 2)):83-86 doi:10.17116/jnevro202312309283.

GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review.

Falsaperla R, Sortino V, Vitaliti G, et al.

Neurogenetics 2024; (25(2)):69-78 doi:10.1007/s10048-023-00742-8.

Genetic testing for non-parkinsonian movement disorders: Navigating the diagnostic maze.

Shambetova C, Klein C

Parkinsonism & related disorders 2024; (121()):106033 doi:10.1016/j.parkreldis.2024.106033.

Differentiating non-epileptic seizures from epileptic seizures in Glut1 deficiency syndrome.

Ito Y, Nakatsukasa H, Toyoma Y, et al.

Developmental medicine and child neurology 2024; (66(11)):1466-1475 doi:10.1111/dmcn.15942.

Analysis of dietary fats intake and lipid profile in Chilean patients with glucose transport type 1 deficiency syndrome: similarities and differences with the reviewed literature.

Salazar MF, Leal-Witt MJ, Parga V, et al.

Frontiers in nutrition 2024; (11()):1390799 doi:10.3389/fnut.2024.1390799.

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.

Mastrangelo M, Manti F, Ricciardi G, et al.

European journal of pediatrics 2024; (183(9)):3665-3678 doi:10.1007/s00431-024-05657-6.

Paroxysmal movement disorders.

Magrinelli F, Bhatia KP

Handbook of clinical neurology 2024; (203()):145-156 doi:10.1016/B978-0-323-90820-7.00010-0.

Sertraline treatment for paroxysmal nonkinesigenic dyskinesia comorbid with anxiety and depression.

Hara M, Matsuishi T, Takahashi S, Yamashita Y

eNeurologicalSci 2024; (36()):100520 doi:10.1016/j.ensci.2024.100520.

Ketogenic diet therapy for the treatment of pediatric epilepsy.

Haridas B, Testino A, Kossoff EH

Epileptic disorders : international epilepsy journal with videotape 2025; (27(2)):144-155 doi:10.1002/epd2.20320.

Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome.

Zhang MJ, Wu , Yu LF, et al.

World journal of pediatrics : WJP 2025; (21(2)):149-158 doi:10.1007/s12519-024-00864-5.

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

Penn D, Amir Y, David GB, et al.

Movement disorders clinical practice 2025; (12(11)):1811-1820 doi:10.1002/mdc3.70145.

The Influence of Videography in the Foundation and Future of Movement Disorders.

Rosso M, Chu D, Barton B

Movement disorders clinical practice 2026; (13(2)):359-368 doi:10.1002/mdc3.70299.

Paroxysmal Dyskinesias in Paediatric Age: A Systematic Review.

Pisanò G, Gnazzo M, Sigona G, et al.

Journal of clinical medicine 2025; (14(17)) doi:10.3390/jcm14175925.

The relationship between genotype and phenotype in Chinese children with glucose transporter type 1 deficiency syndrome.

Zhang MJ, Zhang SM, Zhang QP, et al.

Frontiers in neurology 2025; (16()):1638549 doi:10.3389/fneur.2025.1638549.

Early recognition of status dystonicus in children: a case-based approach for the general pediatrician.

Robbins AL, Yang K, Ebrahimi-Fakhari D, O'Malley JA

Current opinion in pediatrics 2025; (37(6)):555-563 doi:10.1097/MOP.0000000000001507.

In search of "what really matters": Insights from a web-based survey on Patient-Centered Outcomes in GLUT1DS.

Varesio C, Pasca L, Zanaboni MP, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2026; (60()):101-108 doi:10.1016/j.ejpn.2026.01.002.

A Case of Familial Paroxysmal Non-kinesigenic Dyskinesia in Mainland China: A Clinical and Genetic Investigation.

Zhang W, Li J, Xie R, et al.

Cureus 2026; (18(1)):e101172 doi:10.7759/cureus.101172.

Clinical, practical, and psychosocial challenges of living with glucose transporter type 1 deficiency syndrome.

El Zibaoui R, McDonald TJW, Steele G, et al.

Seizure 2026; (137()):105-111 doi:10.1016/j.seizure.2026.03.005.

Clinical features and genetic analysis of paroxysmal kinesigenic dyskinesia in children.

Zheng LP, Ye YP, Wang SP, et al.

Frontiers in neurology 2026; (17()):1788601 doi:10.3389/fneur.2026.1788601.

Movement Disorders in MOGAD: A Systematic Review.

Kalampokini S, Frontistis A, Pilavas A, et al.

Medicina (Kaunas, Lithuania) 2026; (62(4)) doi:10.3390/medicina62040693.

Is faciobrachial dystonic seizure a misnomer? A case report of atypical leg-predominant tonic-dystonic attacks in LGI1-associated encephalitis.

Faouzi M, Galati A, Kaza S, Bruno MK

BMC neurology 2026; (26(1)).

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Klepper J, Kiesel L, Runkel E

Neuropediatrics 2026; (57(4)):286-288 doi:10.1055/a-2883-4228.

Movement disorders in GLUT1 deficiency syndrome: a systematic review of the literature.

Bercini Z, Gessani A, Rossi J, et al.

Journal of neurology 2026; (273(8)).

Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients.

Sobrinho LMF, Fontana JC, Lorea CF, et al.

JIMD reports 2026; (67(5)):e70113 doi:10.1002/jmd2.70113.

[Paroxysmal dyskinesias in pediatrics: diagnostic route and treatment].

Baltar Yanes F, Garcia MJ, Deutsch H

Medicina 2026; (86 Suppl 3()):28-36.

Multilevel Structure-Function Coupling Reveals Network Signatures of Remission in Paroxysmal Kinesigenic Dyskinesia.

Li Y, Fang K, Li Z, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; doi:10.1002/mds.70512.

Efficacy and safety evaluation of ketogenic diet therapy in patients with glucose transporter type 1 deficiency syndrome.

Wang M, Liu L, Shang L, et al.

Frontiers in nutrition 2026; (13()):1920521 doi:10.3389/fnut.2026.1920521.

Recent updates in the clinical evaluation and management of pediatric paroxysmal movement disorders.

Donnellan E, Benson A, Gorman KM

Current opinion in pediatrics 2026; doi:10.1097/MOP.0000000000001624.