PEHO syndrome may represent phenotypic expansion at the severe end of the early-onset encephalopathies

Pediatric Neurology

Volumn 60, Issue , 2016, Pages 83-87

  Gawlinski, Pawel ^a   Posmyk, Renata ^b   Gambin, Tomasz ^a,c   Sielicka, Danuta ^d   Chorazy, Monika ^d   Nowakowska, Beata ^a   Jhangiani, Shalini N ^e   Muzny, Donna M ^e   Bekiesinska Figatowska, Monika ^a   Bal, Jerzy ^a   Boerwinkle, Eric ^e,f   Gibbs, Richard A ^e   Lupski, James R ^e,g   Wiszniewski, Wojciech ^a,e  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b Podlaskie Center of Clinical Genetics   (Poland)

^c WARSAW UNIVERSITY OF TECHNOLOGY   (Poland)

^d MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^g TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

encephalopathy; neurodevelopmental disorder; optic atrophy; PEHO; whole exome sequencing

Indexed keywords

CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE LIKE 5; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN SUBUNIT ALPHA O1; TRANSCRIPTION FACTOR HESX1; UNCLASSIFIED DRUG; CDKL5 PROTEIN, HUMAN; GNAO1 PROTEIN, HUMAN; INHIBITORY GUANINE NUCLEOTIDE BINDING PROTEIN; PROTEIN SERINE THREONINE KINASE;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGRESSIVE ENCEPHALOPATHY WITH EDEMA HYPSARRHYTHMIA AND OPTIC ATROPHY SYNDROME; BRAIN EDEMA; DEGENERATIVE DISEASE; DIAGNOSTIC IMAGING; GENETICS; INFANT; INFANTILE SPASM; MUTATION; OPTIC NERVE ATROPHY; PATHOLOGY;

BRAIN EDEMA; CHILD; CHILD, PRESCHOOL; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GI-GO; HUMANS; INFANT; MALE; MUTATION; NEURODEGENERATIVE DISEASES; OPTIC ATROPHY; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; SPASMS, INFANTILE;

EID: 84975453743     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2016.03.011     Document Type: Article

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