EPM CSNK1E
Limited New
Disease ID
EPM, DEE
Gene ID
CSNK1E
Updated
Jun 2, 2026
v2.22.0
Clinical Links
GARD
7140
MalaCard
MYC080
MedGen
199732
Mondo
0020074
OMIM
600863
DECIPHER
CSNK1E
Bioinformatical Links
gnomAD
CSNK1E
TR-Atlas
TR344468
TR Explorer
chr22:38317283-38317375
Suggest Edit

Disease
Epilepsy
Name
Progressive Myoclonic Epilepsy and Developmental and Epileptic Encephalopathy
Inheritance
Autosomal recessive
Description
Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early-onset myoclonus, epilepsy, generalized tonic-clonic seizures, and progressive neurological deterioration1 . It has also been proposed that this locus is also associated with developmental and epileptic encephalopathies2 . We hypothesize that the two diseases may make up an expressivity or phenotypic spectrum and/or that hypermethylation causes changes in onset and severity.
Prevalence
EPM found in one Azerbaijani proband1 and DEE found in two additional patients3 . This expansion has been reported in unaffected individuals1 .
Age of OnsetYears0  10
Age of Onset Details
EPM case reports age of onset 10 years1 and DEE cases onset in infancy

Locus
hg19
chr22:38713287-38713380
hg38
chr22:38317282-38317375
t2t
chr22:38781587-38781680
Details
CGG repeat in exon 1 of CSNK1E. Longest reported expanded allele of an affected individual is 745, with an unaffected sibling with repeat length 980. Father had a repeat of 8 and mother of 131.
Mechanism
Unknown
Mechanism of this disease is largely unknown, but hypermethylation is observed. Expanded alleles exhibit hypermethylation and may mediate epigenetic silencing. Unaffected carriers have been observed, indicating variable expressivity or penetrance.
Year
2025
Location in Gene
Exon 1
Gene Strand

Alleles
Ref. Motif
CCG
Pathogenic (ref.)
CCG
Pathogenic (gene)
CGG
BenignIntermediatePathogenicUnits0  4849  131745  980

References

Direct supporting references for info on this page.

1
A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.
Fulya,Akçimen, Pilar,Alvarez Jerez, Ulviyya,Guliyeva, Jasmine,Lee, Laksh,Malik, Breeana,Baker, Kamran,Salayev, Sughra,Guliyeva, Kimberley J,Billingsley, Henry,Houlden, Andrew B,Singleton, Cornelis,Blauwendraat, Sara,Bandres-Ciga, Rauan,Kaiyrzhanov
Movement disorders : official journal of the Movement Disorder Society · 2025-08-01
pmid:40751262
2
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
Christy W,LaFlamme, Cassandra,Rastin, Soham,Sengupta, Helen E,Pennington, Sophie J,Russ-Hall, Amy L,Schneider, Emily S,Bonkowski, Edith P,Almanza Fuerte, Talia J,Allan, Miranda Perez-Galey,Zalusky, Joy,Goffena, Sophia B,Gibson, Denis M,Nyaga, Nico,Lieffering, Malavika,Hebbar, Emily V,Walker, Daniel,Darnell, Scott R,Olsen, Pandurang,Kolekar, Mohamed Nadhir,Djekidel, Wojciech,Rosikiewicz, Haley,McConkey, Jennifer,Kerkhof, Michael A,Levy, Raissa,Relator, Dorit,Lev, Tally,Lerman-Sagie, Kristen L,Park, Marielle,Alders, Gerarda,Cappuccio, Nicolas,Chatron, Leigh,Demain, David,Genevieve, Gaetan,Lesca, Tony,Roscioli, Damien,Sanlaville, Matthew L,Tedder, Sachin,Gupta, Elizabeth A,Jones, Monika,Weisz-Hubshman, Shamika,Ketkar, Hongzheng,Dai, Kim C,Worley, Jill A,Rosenfeld, Hsiao-Tuan,Chao, Geoffrey,Neale, Gemma L,Carvill, Zhaoming,Wang, Samuel F,Berkovic, Lynette G,Sadleir, Danny E,Miller, Ingrid E,Scheffer, Bekim,Sadikovic, Heather C,Mefford
Nature communications · 2024-08-06
pmid: 39107278
3
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
Christy W,LaFlamme, Cassandra,Rastin, Soham,Sengupta, Helen E,Pennington, Sophie J,Russ-Hall, Amy L,Schneider, Emily S,Bonkowski, Edith P,Almanza Fuerte, Talia J,Allan, Miranda Perez-Galey,Zalusky, Joy,Goffena, Sophia B,Gibson, Denis M,Nyaga, Nico,Lieffering, Malavika,Hebbar, Emily V,Walker, Daniel,Darnell, Scott R,Olsen, Pandurang,Kolekar, Mohamed Nadhir,Djekidel, Wojciech,Rosikiewicz, Haley,McConkey, Jennifer,Kerkhof, Michael A,Levy, Raissa,Relator, Dorit,Lev, Tally,Lerman-Sagie, Kristen L,Park, Marielle,Alders, Gerarda,Cappuccio, Nicolas,Chatron, Leigh,Demain, David,Genevieve, Gaetan,Lesca, Tony,Roscioli, Damien,Sanlaville, Matthew L,Tedder, Sachin,Gupta, Elizabeth A,Jones, Monika,Weisz-Hubshman, Shamika,Ketkar, Hongzheng,Dai, Kim C,Worley, Jill A,Rosenfeld, Hsiao-Tuan,Chao, Geoffrey,Neale, Gemma L,Carvill, Zhaoming,Wang, Samuel F,Berkovic, Lynette G,Sadleir, Danny E,Miller, Ingrid E,Scheffer, Bekim,Sadikovic, Heather C,Mefford
Nature communications · 2024-08-06
pmid:39107278

Additional Literature

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