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Article

X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family.

Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2021

Hung Ling-Yin, Subramaniam Shreenidhi Ranganatha, Tong Tsz-Yan Tammy, Chan Wing-Ki, Yau Eric Kin-Cheong, Ching Chor-Kwan

Abstract excerpt

BACKGROUND: Developmental and epileptic encephalopathy 9 (DEE9, MIM #300088) is an early onset seizure disorder associated with cognitive impairment and behavioral disturbances. It is caused by mutation in protocadherin 19 with an unusual X-linked inheritance selectively involving heterozygous females or mosaic hemizygous males, while hemizygous males are unaffected. Cellular interference was the postulated...

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Identifiers

PMID: 34331950
DOI: 10.1016/j.cca.2021.07.023

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