ArticleMolecular syndromology2012
Adult Phenotypes in Angelman- and Rett-Like Syndromes.
Article in Molecular syndromology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.Molecular autism · 2019Pooled it
- "SHANK3 deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration".Molecular psychiatry · 2026Article
- Review
- Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression.Nature communications · 2021Article
- KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood.Neurology. Genetics · 2020Article
- Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.Genes · 2020Article
- Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.Frontiers in pharmacology · 2020Review
- Reduced Efficacy of d-Amphetamine and 3,4-Methylenedioxymethamphetamine in Inducing Hyperactivity in Mice Lacking the Postsynaptic Scaffolding Protein SHANK1.Frontiers in molecular neuroscience · 2018Article
- Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).Journal of psychiatric research · 2017Article
- Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century.Current neurology and neuroscience reports · 2016Review
- Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.Journal of child neurology · 2015Review
- Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.BMC medical genetics · 2014Article
- Discovering disease-disease associations by fusing systems-level molecular data.Scientific reports · 2013Article
- Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.Molecular autism · 2013Article
- Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAngelman- and Rett-like syndromes share a range of clinical characteristics, including intellectual disability (ID) with or without regression, epilepsy, infantile encephalopathy, postnatal microcephaly, features of autism spectrum disorder, and variable other neurological symptoms. The phenotypic spectrum generally has been well studied in children; however, evolution of the phenotypic spectrum into adulthood has been documented less extensively. To obtain more insight into natural course and prognosis of these syndromes with respect to developmental, medical, and socio-behavioral outcomes, we studied the phenotypes of 9 adult patients who were recently diagnosed with 6 different Angelman- and Rett-like syndromes.
methodsAll these patients were ascertained during an ongoing cohort study involving a systematic clinical genetic diagnostic evaluation of over 250, mainly adult patients with ID of unknown etiology.
resultsWe describe the evolution of the phenotype in adults with EHMT1, TCF4, MECP2, CDKL5, and SCN1A mutations and 22qter deletions and also provide an overview of previously published adult cases with similar diagnoses.
conclusionThese data are highly valuable in adequate management and follow-up of patients with Angelman- and Rett-like syndromes and accurate counseling of their family members. Furthermore, they will contribute to recognition of these syndromes in previously undiagnosed adult patients.
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Registered trials
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