Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome

Child's Nervous System

Volumn 22, Issue 3, 2006, Pages 320-324

  Giampietro, Philip F ^a   Schowalter, D B ^b   Merchant, S ^c   Campbell, L R ^a   Swink, T ^a   Roa, B B ^d  

^a MARSHFIELD CLINIC   (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF ALBERTA   (Canada)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Ketogenic diet; MECP2; Rett syndrome; Type 1 Chiari malformation

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; ATAXIA; CASE REPORT; DEVELOPMENTAL DISORDER; DIAGNOSTIC VALUE; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; KETOGENIC DIET; MICROCEPHALY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; TONIC CLONIC SEIZURE; TREATMENT OUTCOME;

BUDD-CHIARI SYNDROME; CEREBELLUM; CHILD; CHILD, PRESCHOOL; DIET, CARBOHYDRATE-RESTRICTED; ENCEPHALOCELE; FEMALE; HUMANS; INFANT; KETONE BODIES; KETOSIS; METHYL-CPG-BINDING PROTEIN 2; MICROCEPHALY; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RETT SYNDROME; SEIZURES;

EID: 33644542085     PISSN: 02567040     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00381-005-1155-z     Document Type: Article

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