A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.

Autor:	Chinen, Yasutsugu, Nakamura, Sadao, Kaneshi, Takuya, Nakayashiro, Mami, Yanagi, Kumiko, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Předmět:	PEOPLE with epilepsy HEART abnormalities GENETIC mutation TRANSPOSITION of great vessels ETIOLOGY of diseases
Zdroj:	Human Genome Variation; 5/13/2019, Vol. 6 Issue 1, pN.PAG-N.PAG, 1p
Abstrakt:	Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associated CdLS with a novel SMC1A truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable seizures from 40 months of age. A review of the literature revealed that a seizure-free period after birth of at least 15 months is required for these patients to be able to walk, irrespective of the epileptic course. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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