Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

Genetics in Medicine

Volumn 18, Issue 9, 2016, Pages 898-905

  Helbig, Katherine L ^a   Farwell Hagman, Kelly D ^a   Shinde, Deepali N ^a   Mroske, Cameron ^a   Powis, Zöe ^a   Li, Shuwei ^a   Tang, Sha ^a   Helbig, Ingo ^b,c  

^a AMBRY GENETICS   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF KIEL   (Germany)

Author keywords

diagnostic yield; epilepsy; epileptic encephalopathy; seizure; whole exome sequencing

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; COQ4 GENE; DIAGNOSTIC EXOME SEQUENCING; DIAGNOSTIC VALUE; DNM1 GENE; EPILEPSY; EXOME; FEMALE; FIRST-DEGREE RELATIVE; FOCAL EPILEPSY; FOXG1 GENE; FRONTAL LOBE EPILEPSY; GENE; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INFANTILE SPASM; IQSEC2 GENE; KCNQ2 GENE; KMT2A GENE; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; MECP2 GENE; MOLECULAR DIAGNOSIS; MYOCLONUS EPILEPSY; NEWBORN; OCCIPITAL LOBE EPILEPSY; ONSET AGE; PURA GENE; ROLANDIC EPILEPSY; STXBP1 GENE; SYMPTOMATIC EPILEPSY; TEMPORAL LOBE EPILEPSY; GENETIC PREDISPOSITION; GENETICS; INFANT; MOLECULAR PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PROCEDURES; WHOLE EXOME SEQUENCING;

COQ4 PROTEIN, HUMAN; DNA BINDING PROTEIN; DNM1L PROTEIN, HUMAN; GUANOSINE TRIPHOSPHATASE; MICROTUBULE ASSOCIATED PROTEIN; MITOCHONDRIAL PROTEIN; PURA PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; EPILEPSY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GTP PHOSPHOHYDROLASES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MITOCHONDRIAL PROTEINS; PATHOLOGY, MOLECULAR; TRANSCRIPTION FACTORS; WHOLE EXOME SEQUENCING;

EID: 84984972724     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.186     Document Type: Article

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