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Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.

Brain & development - 1 Mar 2021

Ittiwut Chupong, Poonmaksatit Sathida, Boonsimma Ponghatai, Desudchit Tayard, Suphapeetiporn Kanya, Ittiwut Rungnapa, Shotelersuk Vorasuk

Abstract excerpt

BACKGROUND: In approximately half of patients with epilepsy and intellectual disability (ID), the cause is unidentified and could be a mutation in a new disease gene. PATIENT DESCRIPTION: To determine the discovery of disease-causing mutation in a female patient with epilepsy and ID, we performed trio whole-exome sequencing, reverse transcription polymerase chain reaction (RT-PCR) followed by Sanger sequencing....

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PMID: 33190975
DOI: 10.1016/j.braindev.2020.10.016

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