Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Mar 2006

Giampietro P F, Schowalter D B, Merchant S, Campbell L R, Swink T, Roa B B

Abstract excerpt

CASE REPORT: We describe a female patient with Arnold Chiari type I malformation, atypical Rett syndrome characterized by postnatal onset microcephaly, stereotypic hand movements, ataxia, severe developmental delay, intractable tonic-clonic seizures, and a MECP2 mutation with a unique set of clinical findings. Implementation of a ketogenic diet resulted in decreased seizure activity and an improvement in the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cerebellum
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Encephalocele

Share to Infant

Share to Methyl-CpG-Binding Protein 2

Share to Microcephaly

Share to Rett Syndrome

Share to Seizures

Source

Identifiers

PMID: 15875198
DOI: 10.1007/s00381-005-1155-z

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.PMID 15875198Read ↗

Epilepsy and the natural history of Rett syndrome.Semantic proximity Read ↗

Rett Syndrome: A Timely Review From Recognition to Current Clinical Approaches and Clinical Study Updates.Semantic proximity Read ↗

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.Semantic proximity Read ↗

[Rett syndrome: from pathophysiology to developments in treatment].Semantic proximity Read ↗

Genetic and epileptic features in Rett syndrome.Semantic proximity Read ↗

MECP2 Variant Spectrum and Genotype-Phenotype Correlations in Iranian Rett Syndrome Patients: Identification of a Novel Frameshift Mutation.Semantic proximity Read ↗

Rett syndrome and epilepsy: an update for child neurologists.Semantic proximity Read ↗

Rett syndrome: clinical review and genetic update.Semantic proximity Read ↗

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.Semantic proximity Read ↗

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.Semantic proximity Read ↗

Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study.Semantic proximity Read ↗

Expanding the clinical picture of the MECP2 Duplication syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.