FAME4 YEATS2
Disease ID
FAME4
Gene ID
YEATS2
Updated
Feb 7, 2025
v2.3.1
v2.3.1
Disease
Name
Familial adult myoclonic epilepsy 4
Inheritance
Autosomal dominant Locus
Details
Alleles
Ref. Motif
TTTTA
Pathogenic (ref.)
TTTCA
Pathogenic (gene)
ATTTC
Unknown (ref.)
TTTTT, TGTTA
Unknown (gene)
TTTTT, ATGTT
gnomAD
Pathogenic Genotype (%): % of individuals predicted to be affected based on their genotype
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)
FAME4-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