EPM1 CSTB

Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time¹.

Prevalence

Worldwide prevalence unknown; Finland prevalence 2-4/100,000. Found across ethnicities/ancestries, with population-dependent prevalence; highest in Tunisia, Algeria, Morocco, and Finland².

Age of Onset Details

Typical: 6-15²; Range: 6-18³.

Locus

hg19

chr21:45196324-45196360

hg38

chr21:43776443-43776479

t2t

chr21:42132055-42132091

Mechanism

LoF

LoF⁴.

Year

1997⁵

Gene Strand

Alleles

Ref. Motif

CGCGGGGCGGGG

Pathogenic (ref.)

CGCGGGGCGGGG

Pathogenic (gene)

CCCCGCCCCGCG

gnomAD

Pathogenic Genotype (%): % of individuals predicted to be affected based on their genotype

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0009698

Progressive Myoclonic Epilepsy Type 1

Anna-Elina,Lehesjoki, Reetta,Kälviäinen

GeneReviews® · 1993-01-01

genereviews:NBK1142

Clinical picture of EPM1-Unverricht-Lundborg disease.

Reetta,Kälviäinen, Jelena,Khyuppenen, Päivi,Koskenkorva, Kai,Eriksson, Ritva,Vanninen, Esa,Mervaala

Epilepsia · 2008-03-05

pmid:18325013

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

pmid:38467784

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

M D,Lalioti, H S,Scott, C,Buresi, C,Rossier, A,Bottani, M A,Morris, A,Malafosse, S E,Antonarakis

Nature · 1997-04-24

pmid:9126745

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

Discovery of a Novel Shared Variant Among

Sima,Chaudhari, Lavanya Prakash,Acharya, Dushyanth Babu,Jasti, Akshay Pramod,Ware, Sankar Prasad,Gorthi, Kapaettu,Satyamoorthy

International journal of genomics · 2024-08-10

pmid:39156922

CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy.

Emrah,Gumusgoz, Sahba,Kasiri, Mayank,Verma, Jun,Wu, Daniel,Villarreal Acha, Ummay,Marriam, Sharyl,Fyffe-Maricich, Amy,Lin, Xin,Chen, Steven J,Gray, Berge A,Minassian

Gene therapy · 2023-12-22

pmid:38135787

Short- and long-interval intracortical inhibition in EPM1 is related to genotype.

Katri,Silvennoinen, Laura,Säisänen, Jelena,Hyppönen, Saara M,Rissanen, Pasi A,Karjalainen, Sasha,D'Ambrosio, Diego,Jimenez-Jimenez, Sara,Zagaglia, John C,Rothwell, Simona,Balestrini, Sanjay M,Sisodiya, Petro,Julkunen, Esa,Mervaala, Reetta,Kälviäinen

Epilepsia · 2022-12-01

pmid:36398398

Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs.

Valeria,Lucchino, Luana,Scaramuzzino, Stefania,Scalise, Michela,Lo Conte, Clara,Zannino, Giorgia Lucia,Benedetto, Umberto,Aguglia, Edoardo,Ferlazzo, Giovanni,Cuda, Elvira Immacolata,Parrotta

Cells · 2022-11-04

pmid:36359887

Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.

Hassan,Hosny, Mohamed,El Tamawy, Riyad,Gouider, Gaetan,Lesca, Maged,Abdel Naseer, Nirmeen,Kishk, Mohamed S,Abdel-Hamid, Ayman,Ashmawi

Epilepsy research · 2021-08-25

pmid:34474241

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

Magdalena,Bosak, Anna,Sułek, Maria,Łukasik, Amadeusz,Żak, Agnieszka,Słowik, Anetta,Lasek-Bal

Epilepsy & behavior : E&B · 2020-09-10

pmid:32920378

ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.

Iman G,Mahmoud, Mohamed A,Elmonem, Maha S,Zaki, Areef,Ramadan, Nihal M,Al-Menabawy, Aya,El-Gamal, Lobna,Mansour, Mahmoud Y,Issa, Mohamed S,Abdel-Hamid, Sawsan,Abdel-Hady, Iman,Khalifa, Ahmed,Ibrahim, Alexander,Solyom, Arndt,Rolfs, Laila,Selim

Clinical genetics · 2020-09-02

pmid:32875576

Teenage-onset progressive myoclonic epilepsy due to a familial

Jelle,van den Ameele, Ivana,Jedlickova, Anna,Pristoupilova, Anne,Sieben, Sara,Van Mossevelde, Chantal,Ceuterick-de Groote, Helena,Hůlková, Radoslav,Matej, Alfred,Meurs, Christine,Van Broeckhoven, Samuel F,Berkovic, Patrick,Santens, Stanislav,Kmoch, Bart,Dermaut

Neurology · 2018-01-19

pmid:29352102

No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.

Laura,Mumoli, Patrizia,Tarantino, Roberto,Michelucci, Amedeo,Bianchi, Angelo,Labate, Silvana,Franceschetti, Carla,Marini, Pasquale,Striano, Monica,Gagliardi, Edoardo,Ferlazzo, Vito,Sofia, Loredana,Pennese, Grazia,Annesi, Umberto,Aguglia, Renzo,Guerrini, Federico,Zara, Antonio,Gambardella

Epilepsia · 2015-03-06

pmid:25752200