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Article

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

American journal of medical genetics. Part A - 1 Apr 2017

Marini Carla, Hardies Katia, Pisano Tiziana, May Patrick, Weckhuysen Sarah, Cellini Elena, Suls Arvid, Mei Davide, Balling Rudi, Jonghe Peter D, Helbig Ingo, Garozzo Domenico, Guerrini Renzo

Abstract excerpt

We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed...

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PMID: 28328131
DOI: 10.1002/ajmg.a.38112

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