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

Early progressive encephalopathy in boys and MECP2 mutations.

Neurology - 11 Jul 2006

Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris C M, Dure L S, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann W E, Ravine D, Percy A K

Abstract excerpt

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy: seven of nine with affected sisters and two de novo. The authors report four de novo occurrences: three pathogenic and one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, and abnormal motor control. MECP2 mutations should...

Read the complete abstract on PubMed

Topics

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

Share to Cerebral Cortex
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Infant

Share to Magnetic Resonance Imaging

Share to Methyl-CpG-Binding Protein 2

Share to Mutation

Share to Rett Syndrome

Source

Identifiers

PMID: 16832102
DOI: 10.1212/01.wnl.0000223318.28938.45

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Early progressive encephalopathy in boys and MECP2 mutations.PMID 16832102Read ↗

An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report.Semantic proximity Read ↗

Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.Semantic proximity Read ↗

A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy.Semantic proximity Read ↗

MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.Semantic proximity Read ↗

MECP2-related conditions in males: A systematic literature review and 8 additional cases.Semantic proximity Read ↗

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.Semantic proximity Read ↗

A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation.Semantic proximity Read ↗

Male Rett phenotypes in T158M and R294X MeCP2-mutations.Semantic proximity Read ↗

Two affected boys in a Rett syndrome family: clinical and molecular findings.Semantic proximity Read ↗

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.Semantic proximity Read ↗

Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.Semantic proximity Read ↗

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.Semantic proximity Read ↗

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