TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4-Reference-Cited by-同舟云学术

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

Published:2019-09-20 Issue:11 Volume:142 Page:3360-3366
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Yeetong Patra¹^ORCID,Pongpanich Monnat²³,Srichomthong Chalurmpon⁴⁵,Assawapitaksakul Adjima⁴⁵,Shotelersuk Varote⁴⁵,Tantirukdham Nithiphut¹,Chunharas Chaipat⁶,Suphapeetiporn Kanya⁴⁵,Shotelersuk Vorasuk⁴⁵^ORCID

Affiliation:

1. Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok, Thailand

2. Department of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand

3. Omics Sciences and Bioinformatics Center, Faculty of Science, Chulalongkorn University, Bangkok,, Thailand

4. Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

5. Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand

6. Division of Neurology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

Abstract

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.

Funder

Chulalongkorn Academic Advancement Into Its 2nd Century Project

Development of New Faculty Staff

Ratchadaphiseksomphot Endowment Fund

Medical Genomics Cluster

Chulalongkorn University

Thailand Research Fund

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

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