CDKL5-related disorders: From clinical description to molecular genetics

Molecular Syndromology

Volumn 2, Issue 3-5, 2011, Pages 137-152

  Bahi Buisson, N ^a,b,c   Bienvenu, T ^a,b,d  

^a INSERM   (France)

^b INSTITUT COCHIN   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

CDKL5; Epileptic encephalopathy; Rett syndrome

Indexed keywords

ANTICONVULSIVE AGENT; CYCLIN DEPENDENT KINASE 5; ETIRACETAM; MELATONIN; STEROID; VALPROIC ACID; VIGABATRIN;

ANTICONVULSANT THERAPY; ARTICLE; BRAIN DISEASE; BRAIN FUNCTION; CLINICAL FEATURE; EPILEPSY; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE LOCATION; GENE MUTATION; GENE REARRANGEMENT; GENE STRUCTURE; GENOTYPE; GROWTH DISORDER; HUMAN; INFANTILE SPASM; INHERITANCE; INTELLECTUAL IMPAIRMENT; LENNOX GASTAUT SYNDROME; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR GENETICS; MYOCLONUS; MYOCLONUS EPILEPSY; MYOCLONUS SEIZURE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; RETT SYNDROME; SEIZURE; SEX DIFFERENCE; SLEEP DISORDER; STEREOTYPY; TONIC SEIZURE;

EID: 84860202594     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000331333     Document Type: Article

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