Research & Literature

Progressive Myoclonus Epilepsies.

Kälviäinen R

Seminars in neurology 2015; (35(3)):293-9 doi:10.1055/s-0035-1552620.

Deletion of Prdm8 impairs development of upper-layer neocortical neurons.

Inoue M, Iwai R, Yamanishi E, et al.

Genes to cells : devoted to molecular & cellular mechanisms 2015; (20(9)):758-70 doi:10.1111/gtc.12274.

Clinical efficacy of perampanel for partial-onset and primary generalized tonic-clonic seizures.

Besag FM, Patsalos PN

Neuropsychiatric disease and treatment 2016; (12()):1215-20 doi:10.2147/NDT.S83842.

Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials.

Michelucci R, Pasini E, Riguzzi P, et al.

Epileptic disorders : international epilepsy journal with videotape 2016; (18(S2)):145-153 doi:10.1684/epd.2016.0861.

Neurophysiology of myoclonus and progressive myoclonus epilepsies.

Avanzini G, Shibasaki H, Rubboli G, et al.

Epileptic disorders : international epilepsy journal with videotape 2016; (18(S2)):11-27 doi:10.1684/epd.2016.0835.

Lafora disease.

Turnbull J, Tiberia E, Striano P, et al.

Epileptic disorders : international epilepsy journal with videotape 2016; (18(S2)):38-62 doi:10.1684/epd.2016.0842.

Perampanel in 12 patients with Unverricht-Lundborg disease.

Crespel A, Gelisse P, Tang NP, Genton P

Epilepsia 2017; (58(4)):543-547 doi:10.1111/epi.13662.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.

Oliver KL, Franceschetti S, Milligan CJ, et al.

Annals of neurology 2017; (81(5)):677-689 doi:10.1002/ana.24929.

Management of epilepsy in MERRF syndrome.

Finsterer J, Zarrouk-Mahjoub S

Seizure 2017; (50()):166-170 doi:10.1016/j.seizure.2017.06.010.

Update on Pharmacological Treatment of Progressive Myoclonus Epilepsies.

Ferlazzo E, Trenite DK, Haan GJ, et al.

Current pharmaceutical design 2017; (23(37)):5662-5666 doi:10.2174/1381612823666170809114654.

A Prdm8 target gene Ebf3 regulates multipolar-to-bipolar transition in migrating neocortical cells.

Iwai R, Tabata H, Inoue M, et al.

Biochemical and biophysical research communications 2018; (495(1)):388-394 doi:10.1016/j.bbrc.2017.11.021.

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.

Araya N, Takahashi Y, Shimono M, et al.

Human genome variation 2018; (5()):16 doi:10.1038/s41439-018-0015-9.

[Lafora disease: a review of the literature].

Desdentado L, Espert R, Sanz P, Tirapu-Ustarroz J

Revista de neurologia 2019; (68(2)):66-74.

An Italian multicentre study of perampanel in progressive myoclonus epilepsies.

Canafoglia L, Barbella G, Ferlazzo E, et al.

Epilepsy research 2019; (156()):106191 doi:10.1016/j.eplepsyres.2019.106191.

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Orsini A, Valetto A, Bertini V, et al.

Seizure 2019; (71()):247-257 doi:10.1016/j.seizure.2019.08.012.

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.

Rochtus A, Olson HE, Smith L, et al.

Epilepsia 2020; (61(2)):249-258 doi:10.1111/epi.16427.

Prdm8 regulates pMN progenitor specification for motor neuron and oligodendrocyte fates by modulating the Shh signaling response.

Scott K, O'Rourke R, Gillen A, Appel B

Development (Cambridge, England) 2020; (147(16)) doi:10.1242/dev.191023.

Genetic testing and the phenotype of Polish patients with Unverricht-Lundborg disease (EPM1) - A cohort study.

Bosak M, Sułek A, Łukasik M, et al.

Epilepsy & behavior : E&B 2020; (112()):107439 doi:10.1016/j.yebeh.2020.107439.

Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center.

Liu Y, Liu X, Qin D, et al.

Journal of molecular neuroscience : MN 2021; (71(4)):845-853 doi:10.1007/s12031-020-01707-4.

The improvement in diagnosis and epilepsy managing in children with progressive myoclonus epilepsy during the last decade - A tertiary center experience in cohort of 51 patients.

Kravljanac R, Vucetic Tadic B, Djordjevic M, et al.

Epilepsy & behavior : E&B 2020; (113()):107456 doi:10.1016/j.yebeh.2020.107456.

Lafora body disease: a case of progressive myoclonic epilepsy.

Kaur R, Balaini N, Sharma S, Sharma SK

BMJ case reports 2020; (13(12)) doi:10.1136/bcr-2020-236971.

A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy.

Kimiloğlu E, Akbaş P, Öre ÖE, Turan Ç

Turk patoloji dergisi 2021; (37(3)):264-265 doi:10.5146/tjpath.2021.01522.

Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.

Ohori S, Tsuburaya RS, Kinoshita M, et al.

Journal of human genetics 2021; (66(7)):697-705 doi:10.1038/s10038-020-00893-8.

Juvenile Myoclonic Epilepsy: Myoclonic Status Epilepticus without Coma - Report of Three Cases.

Murthy JMK

Journal of epilepsy research 2020; (10(2)):92-95 doi:10.14581/jer.20015.

The duality of PRDM proteins: epigenetic and structural perspectives.

Di Tullio F, Schwarz M, Zorgati H, et al.

The FEBS journal 2022; (289(5)):1256-1275 doi:10.1111/febs.15844.

Perampanel Improves Cortical Myoclonus and Disability in Progressive Myoclonic Epilepsies: A Case Series and a Systematic Review of the Literature.

Assenza G, Nocerino C, Tombini M, et al.

Frontiers in neurology 2021; (12()):630366 doi:10.3389/fneur.2021.630366.

Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy.

Herzog R, Hellenbroich Y, Brüggemann N, et al.

Annals of clinical and translational neurology 2021; (8(7)):1524-1527 doi:10.1002/acn3.51403.

Cognitive functioning in progressive myoclonus epilepsy type 1 (Unverricht-Lundborg Disease, EPM1).

Äikiä M, Hyppönen J, Mervaala E, Kälviäinen R

Epilepsy & behavior : E&B 2021; (122()):108157 doi:10.1016/j.yebeh.2021.108157.

Miglustat Therapy for SCARB2-Associated Action Myoclonus-Renal Failure Syndrome.

Quraishi IH, Szekely AM, Shirali AC, et al.

Neurology. Genetics 2021; (7(5)):e614 doi:10.1212/NXG.0000000000000614.

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.

Pondrelli F, Muccioli L, Licchetta L, et al.

Orphanet journal of rare diseases 2021; (16(1)):362 doi:10.1186/s13023-021-01989-w.

The second family affected with a PRDM8-related disease.

Davarzani A, Shahrokhi A, Hashemi SS, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(6)):3847-3855 doi:10.1007/s10072-021-05815-w.

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

AlAbdi L, Shamseldin HE, Khouj E, et al.

Genome medicine 2023; (15(1)):114 doi:10.1186/s13073-023-01270-8.

Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.

Dobloug S, Kjellström U, Anderson G, et al.

Molecular genetics & genomic medicine 2024; (12(8)):e2505 doi:10.1002/mgg3.2505.

A Novel m.1636A > G Variant in Mitochondrial TV Gene Might Cause New Phenotype of Mitochondrial Disease in a 2-Year Old Chinese Boy.

Yang H, Zhang VW, Ai L, Wu L

Molecular neurobiology 2025; (62(6)):6764-6769 doi:10.1007/s12035-024-04472-2.

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.

Lai G, Gu Q, Lai Z, et al.

Frontiers in pediatrics 2024; (12()):1448895 doi:10.3389/fped.2024.1448895.

Assessing the diagnostic performance of investigations in pediatric myoclonic epilepsies: A retrospective cohort study.

Brulé S, Dozières-Puyravel B, Nasser H, et al.

Epilepsia 2025; (66(7)):2480-2494 doi:10.1111/epi.18383.

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks.

Cameron JM, Mito R, Berkovic SF, Jackson GD

Annals of clinical and translational neurology 2025; (12(6)):1135-1143 doi:10.1002/acn3.70010.

A real-world comparison between the diagnostic yield of trio-whole exome sequencing and proband-only targeted exome sequencing in complex childhood epilepsy.

Fasaludeen A, Jose M, U A, et al.

Seizure 2025; (129()):51-54 doi:10.1016/j.seizure.2025.03.020.

The epidemiology of hereditary spastic paraplegia and associated common mental health outcomes in England and Northern Ireland.

Jeyakumar H, Chandan JS, Nirantharakumar K, Lee SI

Orphanet journal of rare diseases 2025; (20(1)):326 doi:10.1186/s13023-025-03849-3.

Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia.

Song J, Wu W, Tian Y, et al.

Frontiers in neuroscience 2025; (19()):1670008 doi:10.3389/fnins.2025.1670008.

Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease.

Fang Z, Sun X, Hu Y, et al.

Frontiers in neuroscience 2026; (20()):1742318 doi:10.3389/fnins.2026.1742318.

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.

Safka Brozkova D, Paulasova Schwabova J, Vyhnalkova E, et al.

Human genomics 2026; (20(1)).

Progressive Myoclonic Epilepsies - A Pragmatic Review.

Cherian A, Divya KP

Neurology India 2026; (74(2)):175-183 doi:10.4103/neurol-india.Neurol-India-D-25-00075.

The Roles of the PRDM Family in the Neuro-Motor System.

Deng S, Li H, Feng J, et al.

Biomolecules 2026; (16(4)) doi:10.3390/biom16040497.

Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report.

Tsuchie H, Kawanami Y, Yoshino G, et al.

Yonago acta medica 2026; (69(2)):223-227 doi:10.33160/yam.2026.05.009.

Polypharmacy's paradox: accelerated decline in a rare case of Lafora body disease.

Hussain T, Gupta K, Tiwari A, Mishra PS

Postepy psychiatrii neurologii 2026; (35(2)):141-145 doi:10.5114/ppn.2026.161380.