Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy

Clinica Chimica Acta

Volumn 451, Issue , 2015, Pages 292-296

  Law, Chun Yiu ^a   Chang, Sharon Tzu Lun ^a   Cho, Sun Young ^b   Yau, Eric Kin Cheong ^c   Ng, Grace Sui Fun ^c   Fong, Nai Chung ^c   Lam, Ching Wan ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b Kyung Hee University Hospital   (South Korea)

^c PRINCESS MARGARET HOSPITAL   (Hong Kong)

Author keywords

Clinical whole exome sequencing; Early infantile epileptic encephalopathy; GNAO1

Indexed keywords

GNAO1 PROTEIN, HUMAN; INHIBITORY GUANINE NUCLEOTIDE BINDING PROTEIN;

CASE REPORT; DNA SEQUENCE; EPILEPSY; EXOME; FEMALE; GENETICS; HUMAN; INFANT; MISSENSE MUTATION; ONSET AGE;

AGE OF ONSET; EPILEPSY; EXOME; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GI-GO; HUMANS; INFANT; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA;

EID: 84952984560     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2015.10.011     Document Type: Article

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