Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression

Annals of Neurology

Volumn 81, Issue 3, 2017, Pages 419-429

  Olson, Heather E ^a,b   Kelly, McKenna ^a   LaCoursiere, Christopher M ^a   Pinsky, Rebecca ^a   Tambunan, Dimira ^a   Shain, Catherine ^a,c   Ramgopal, Sriram ^a,d   Takeoka, Masanori ^a,b   Libenson, Mark H ^a,b   Julich, Kristina ^a   Loddenkemper, Tobias ^a,b   Marsh, Eric D ^e   Segal, Devorah ^f,g   Koh, Susan ^h   Salman, Michael S ⁱ   Paciorkowski, Alex R ^j   Yang, Edward ^a,b   Bergin, Ann M ^a,b   Sheidley, Beth Rosen ^a   Poduri, Annapurna ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^g WEILL CORNELL MEDICAL COLLEGE   (United States)

^h CHILDREN S HOSPITAL COLORADO   (United States)

ⁱ UNIVERSITY OF MANITOBA   (Canada)

^j UNIVERSITY OF ROCHESTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PYRIDOXAL 5 PHOSPHATE; AMINO ACID TRANSFER RNA LIGASE; KCNQ2 PROTEIN, HUMAN; O-PHOSPHOSERYL-TRNA:SELENOCYSTEINYL-TRNA SYNTHASE, HUMAN; POTASSIUM CHANNEL KCNQ2;

ARTICLE; BRAIN DISEASE; CEREBROSPINAL FLUID LEVEL; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CORRELATION ANALYSIS; CORTICAL DYSPLASIA; EARLY MYOCLONIC ENCEPHALOPATHY; EARLY ONSET EPILEPTIC ENCEPHALOPATHY WITH BURST SUPPRESSION; ELECTROENCEPHALOGRAPHY; FEMALE; GENE; GENETIC ANALYSIS; GENETIC VARIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; KCNQ2 GENE; LABORATORY TEST; MALE; MOLECULAR DIAGNOSIS; MYOCLONUS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OHTAHARA SYNDROME; PIGA GENE; PNPO GENE; PRIORITY JOURNAL; SCN2A GENE; SEIZURE; SEPSECS GENE; STXBP1 GENE; WHOLE EXOME SEQUENCING; ADOLESCENT; CHILD; EXOME; FOLLOW UP; GENETIC SCREENING; GENETICS; GENOTYPE; INFANTILE SPASM; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD;

ADOLESCENT; AMINO ACYL-TRNA SYNTHETASES; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EXOME; FEMALE; FOLLOW-UP STUDIES; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; KCNQ2 POTASSIUM CHANNEL; MAGNETIC RESONANCE IMAGING; MALE; PHENOTYPE; SPASMS, INFANTILE;

EID: 85013213045     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24883     Document Type: Article

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