Locus FAME4 YEATS2
Disease ID
FAME4
Gene ID
YEATS2
Updated
Oct 2, 2026
v2.27.0
v2.27.0
Other gene loci
–
Clinical Links
Disease
NameFamilial adult myoclonic epilepsy 4
Inheritance
DescriptionCortical tremor, seizures with generalised motor (tonic-clonic) onset1 .
PrevalenceFAME overall is 1/35,000 in Japan. This repeat expansion is typically found in individuals of East Asian ancestry1 .
HPO Terms
HP:0001249 Intellectual disabilityHP:0001250 SeizureHP:0001336 MyoclonusHP:0001337 TremorHP:0001340 Enhancement of the C-reflexHP:0001351 Jerk-locked premyoclonus spikesHP:0002069 Bilateral tonic-clonic seizureHP:0002197 Generalized-onset seizureHP:0002315 HeadacheHP:0002353 EEG abnormalityHP:0002378 Hand tremorHP:0002392 EEG with polyspike wave complexesHP:0007359 Focal-onset seizureHP:0100576 Amaurosis fugax
Association
Mendelian
Locus
DetailsNovel insertion of ~1000 repeats observed to cause disease3 .
MechanismRNA toxicity hypothesized3 .
GoF?
Detection
Year
Year first published
20193
Location in Gene
Intron 1
Gene Strand
Alleles
Ref. Motif Reference motif, reference orientation
TTTTA
Ranges
Benign (ref.) Benign motif, reference orientation
–
Benign (gene) Benign motif, gene orientation
–
Pathogenic (ref.) Pathogenic motif, reference orientation
TTTCA
Pathogen. (gene) Pathogenic motif, gene orientation
TTTCA
Unknown (ref.) Unknown motif, reference orientation
TTTTT, ATGTT
Unknown (gene) Unknown motif, gene orientation
TTTTT, ATGTT
Interruption (ref.) Interruption motif, reference orientation
–
Interrup. (gene) Interruption motif, gene orientation
–
gnomAD
References
Direct supporting references for info on this page.
1
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese
The Lancet. Neurology · 2024-07-01
pmid:388767502
A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.
Patra,Yeetong, Surasawadee,Ausavarat, Roongroj,Bhidayasiri, Krisna,Piravej, Nath,Pasutharnchat, Tayard,Desudchit, Chaipat,Chunharas, Jakrin,Loplumlert, Chusak,Limotai, Kanya,Suphapeetiporn, Vorasuk,Shotelersuk
European journal of human genetics : EJHG · 2012-06-20
pmid:227138123
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
Patra,Yeetong, Monnat,Pongpanich, Chalurmpon,Srichomthong, Adjima,Assawapitaksakul, Varote,Shotelersuk, Nithiphut,Tantirukdham, Chaipat,Chunharas, Kanya,Suphapeetiporn, Vorasuk,Shotelersuk
Brain : a journal of neurology · 2019-11-01
pmid:31539032Additional 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)
Pentanucleotide repeat instability and transmission in benign adult familial myoclonic epilepsy types 1, 4, and 8.
Supphakorn,Rakwongkhachon, Monnat,Pongpanich, Chalurmpon,Srichomthong, Adjima,Assawapitaksakul, Siraprapa,Tongkobpetch, Kanokwan,Santawong, William A,Gahl, Chaipat,Chunharas, Guida,Landouré, Patra,Yeetong, Vorasuk,Shotelersuk
Epilepsia · 2026-03-24
pmid:41874439Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.
Haruka,Urabe, Takashi,Nakajima, Satomi,Mitsuhashi, Kentaro,Ohta, Hidehiko,Fujinaka, Kiyoe,Goto, Aki,Sato
BMC medical genomics · 2025-11-11
pmid:41219789FAME4-associating YEATS2 knockdown impairs dopaminergic synaptic integrity and leads to seizure-like behaviours in Drosophila melanogaster.
Luca,Lo Piccolo, Ranchana,Yeewa, Sureena,Pohsa, Titaree,Yamsri, Daniel,Calovi, Jutarop,Phetcharaburanin, Manida,Suksawat, Thanaporn,Kulthawatsiri, Vorasuk,Shotelersuk, Salinee,Jantrapirom
Progress in neurobiology · 2023-12-20
pmid:38128822