Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 153, Issue 1, 2010, Pages 202-207

  Bahi Buisson, Nadia ^a,b,c   Girard, Benoit ^d   Gautier, Agnes ^e   Nectoux, Juliette ^b,c,d   Fichou, Yann ^b,c   Saillour, Yoann ^b,c   Poirier, Karine ^b,c   Chelly, Jamel ^b,c,d   Bienvenu, Thierry ^b,c,d  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSTITUT COCHIN   (France)

^c INSERM   (France)

^d Institut Cochin   (France)

^e NANTES UNIVERSITY HOSPITAL   (France)

Author keywords

CDKL5; Encephalopathy; MECP2; Microdeletion; Rett syndrome; Seizures; Xp22

Indexed keywords

CLOBAZAM; CYCLIN DEPENDENT KINASE 5; PHENYTOIN; PYRIDOXINE; TOPIRAMATE; VALPROIC ACID;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME XP; CLINICAL FEATURE; CODING; DECELERATION; DNA MICROARRAY; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EXON; EYE; FEMALE; GAZE; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HAND; HEAD; HUMAN; INFANTILE SPASM; LANGUAGE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; ONSET AGE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; RETT SYNDROME; SEIZURE; STEREOTYPY; TONIC SEIZURE;

BRAIN DISEASES; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; EPILEPSY; EXONS; FEMALE; HUMANS; PROMOTER REGIONS, GENETIC; PROTEIN-SERINE-THREONINE KINASES;

EID: 73949149517     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30974     Document Type: Article

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