CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

Neurology

Volumn 73, Issue 1, 2009, Pages 77-78

  Fichou, Y ^a   Bieth, E ^a   Bahi Buisson, N ^a   Nectoux, J ^a   Girard, B ^a   Chelly, J ^a   Chaix, Y ^a   Bienvenu, T ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE LIKE 5; LEUCINE; PROLINE; UNCLASSIFIED DRUG; CDKL5 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

AMINO ACID SUBSTITUTION; BRAIN ATROPHY; BRAIN DISEASE; CHROMOSOME; CYTOGENETICS; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; EXON; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; INTRACTABLE EPILEPSY; INTRON; LETTER; MUSCLE HYPOTONIA; MUSCLE SPASM; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEIZURE; SEX DIFFERENCE; SPIKE WAVE; TONIC SEIZURE; BRAIN CORTEX; CASE REPORT; COHORT ANALYSIS; DISEASE COURSE; ENZYMOLOGY; EPILEPSY; FEMALE; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MALE; METABOLIC ENCEPHALOPATHY; MOTOR DYSFUNCTION; MUTATION; NOTE; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

AGE OF ONSET; AMINO ACID SUBSTITUTION; BRAIN DISEASES, METABOLIC; CEREBRAL CORTEX; CHILD, PRESCHOOL; COHORT STUDIES; DEVELOPMENTAL DISABILITIES; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EPILEPSY; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MOVEMENT DISORDERS; MUSCLE HYPOTONIA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES;

EID: 68249136813     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000349658.05677.d7     Document Type: Letter

References (5)

1. M Elia M Falco R Ferri CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy Neurology 71 2008 997 999
2. J Tao H Van Esch M Hagedorn-Greiwe Mutations in the X-linked cyclin-dependent kinase-like 5 ( CDKL5/STK9 ) gene are associated with severe neurodevelopmental retardation Am J Hum Genet 75 2004 1149 1154
3. E Scala F Ariani F Mari CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms J Med Genet 42 2005 103 107
4. N Bahi-Buisson A Kaminska N Boddaert The three stages of epilepsy in patients with CDKL5 mutations Epilepsia 49 2008 1027 1037
5. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al. Key clinical features to identify girls with CDKL5 mutations. Brain Epub 2008 Sep 12.