Early progressive encephalopathy in boys and MECP2 mutations

Neurology

Volumn 67, Issue 1, 2006, Pages 164-166

  Kankirawatana, P ^a   Leonard, H ^c   Ellaway, C ^e,f   Scurlock, J ^g   Mansour, A ^e   Makris, C M ^a   Dure IV, L S ^a   Friez, M ^a   Lane, J ^b   Kiraly Borri, C ^g   Fabian, V ^d   Davis, M ^d   Jackson, J ^f   Christodoulou, J ^e,f   Kaufmann, W E ^h   Ravine, D ^d   Percy, A K ^a,b,i  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e UNIVERSITY OF SYDNEY   (Australia)

^f CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^g PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^h JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; BRAIN DISEASE; CASE REPORT; GENE; GENE MUTATION; HUMAN; INFANT; INTRACTABLE EPILEPSY; MALE; MECP2 GENE; MICROCEPHALY; MOTOR CONTROL; MOTOR DYSFUNCTION; PRIORITY JOURNAL; RESPIRATORY FAILURE; SEX ROLE; BRAIN CORTEX; COMPARATIVE STUDY; GENETICS; METHODOLOGY; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; RETT SYNDROME;

CEREBRAL CORTEX; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; METHYL-CPG-BINDING PROTEIN 2; MUTATION; RETT SYNDROME;

EID: 33746861632     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000223318.28938.45     Document Type: Article

References (10)

1. Percy AK, Lane JB. Rett syndrome: clinical and molecular update. Curr Opin Pediatr 2004;16:670-677.
2. Amir R, Van den Veyver I, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-188.
3. Moog U, Smeets EE, van Roozendaal KE, et al. Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). Eur J Paediatr Neurol 2003;7:5-12.
4. Colvin L, Fyfe S, Leonard S, et al. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child 2003;88:38-43.
5. Lynch SA, Whatley SD, Ramesh V, et al. Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. Arch Dis Child Fetal Neonatal Ed 2003;88:F250-252.
6. Leuzzi V, Di Sabato ML, Zollino M, et al. Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. Neurology 2004;63:1968-1970.
7. Masuyama T, Matsuo M, Jing JJ, et al. Classic Rett syndrome in a boy with R133C mutation of MECP2. Brain Dev 2005;27:439-442.
8. Ravn K, Nielsen JB, Uldall P, et al. No correlation between phenotype and genotype in boys with a truncating MECP2 mutation. J Med Genet 2003;40:e5.
9. Badawi N, Kurinczuk JJ, Keogh JM, et al. Antepartum risk factors for newborn encephalopathy: the Western Australian case-control study. BMJ 1998;317:1549-1553.
10. Milunsky JM, Lebo RV, Ikuta T, et al. Mutation analysis in Rett syndrome. Genet Test 2001;5:321-325.