Ohtahara syndrome with emphasis on recent genetic discovery

Brain and Development

Volumn 34, Issue 6, 2012, Pages 459-468

  Pavone, Piero ^a   Spalice, Alberto ^b   Polizzi, Agata ^c   Parisi, Pasquale ^b   Ruggieri, Martino ^d  

^a UNIVERSITY OF CATANIA   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^d UNIVERSITY OF CATANIA   (Italy)

Author keywords

ARX; CDKL5; EEG Suppression burst; Infantile epileptic encephalopathy; Ohtahara syndrome; SLC25A22; Stxbp1

Indexed keywords

ARISTALESS RELATED HOMEOBOX PROTEIN; CORTICOTROPIN; CYCLIN DEPENDENT KINASE 5; EPIDERMAL GROWTH FACTOR RECEPTOR 4; HOMEODOMAIN PROTEIN; MEMBRANE PROTEIN; SLC25A22 PROTEIN; STXBP1 PROTEIN; UNCLASSIFIED DRUG;

CHROMOSOME 11P; CHROMOSOME XP; DIFFERENTIAL DIAGNOSIS; ELECTROENCEPHALOGRAPHY; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; HOMEOBOX; HUMAN; MEDICAL HISTORY; NEUROIMAGING; OHTAHARA SYNDROME; RESPIRATORY CHAIN; SHORT SURVEY;

BRAIN; ELECTROENCEPHALOGRAPHY; EPILEPSY; HUMANS; INFANT; MUTATION; SYNDROME;

EID: 84861191703     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.09.004     Document Type: Short Survey

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