TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4 | Zendy

Patra Yeetong | Zendy; Monnat Pongpanich | Zendy; Chalurmpon Srichomthong | Zendy; Adjima Assawapitaksakul | Zendy; Varote Shotelersuk | Zendy; Nithiphut Tantirukdham | Zendy; Chaipat Chunharas | Zendy; Kanya Suphapeetiporn | Zendy; Vorasuk Shotelersuk | Zendy

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TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4

Author(s) -

Patra Yeetong,

Monnat Pongpanich,

Chalurmpon Srichomthong,

Adjima Assawapitaksakul,

Varote Shotelersuk,

Nithiphut Tantirukdham,

Chaipat Chunharas,

Kanya Suphapeetiporn,

Vorasuk Shotelersuk

Publication year - 2019

Publication title -

brain

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.142

H-Index - 336

eISSN - 1460-2156

pISSN - 0006-8950

DOI - 10.1093/brain/awz267

Subject(s) - myoclonic epilepsy , epilepsy , progressive myoclonus epilepsy , mutation , genetics , medicine , generalized epilepsy , biology , neuroscience , gene

Benign adult familial myoclonic epilepsy (BAFME) is an autosomal disorder characterized by adult-onset cortical tremor and generalized seizures. Using whole genome sequencing, Yeetong et al. identify the causative mutation for type 4 of the disorder (BAFME4), providing insights into the underlying pathogenesis.

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