MECP2 mutation in a boy with severe neonatal encephalopathy: Clinical, neuropathological and molecular findings

Neuropediatrics

Volumn 33, Issue 1, 2002, Pages 33-36

  Geerdink, N ^a   Rotteveel, J J ^a   Lammens, M ^a   Sistermans, E A ^a   Heikens, G T ^a   Gabreels F J M ^a   Mullaart, R A ^a   Hamel, B C J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Bilateral Perisylvian Syndrome; Bilateral Polymicrogyria; Male; MECP2; Rett Syndrome

Indexed keywords

BINDING PROTEIN; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; CPG ISLAND; DELETION MUTANT; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MICROGYRIA; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SUPRASYLVIAN GYRUS;

BRAIN DISEASES; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA-BINDING PROTEINS; HUMANS; INFANT; MALE; METHYL-CPG-BINDING PROTEIN 2; MUTATION; REPRESSOR PROTEINS; RETT SYNDROME; SEVERITY OF ILLNESS INDEX;

EID: 0036211908     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-23598     Document Type: Article

References (16)

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
2. The neuropathology of Rett syndrome - Overview 1994
3. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
4. Rett syndrome and mitochondrial enzyme deficiencies
5. MECP2 is highly mutated in X-linked mental retardation
6. Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment
7. MeCP2 mutations in children with and without the phenotype of Rett syndrome
8. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
9. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
10. MECP2 mutation in male patients with non-specific X-linked mental retardation
11. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome
12. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene
13. Two affected boys in a Rett syndrome family: Clinical and molecular findings
14. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
15. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
16. Rett syndrome and the MECP2 gene