Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation-Reference-Cited by-同舟云学术

Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation

Published:2020-09-21 Issue:12 Volume:182 Page:2982-2987
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cacciatori Elena¹,Lelii Mara¹,Russo Silvia²,Alari Valentina²,Masciadri Maura²,Guez Sophie¹,Patria Maria Francesca¹,Marchisio Paola¹³,Milani Donatella¹^ORCID

Affiliation:

1. Fondazione IRCCS Ca' Granda Milan Italy

2. Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS Istituto Auxologico Italiano Milan Italy

3. Department of Pathophysiology and Transplantation University of Milan Milan Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61874

Reference42 articles.

1. Polysomnographic findings in Rett syndrome

2. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

3. Sleep Apnea in Patients With Rett Syndrome

4. Excitation/inhibition imbalance and impaired synaptic inhibition in hippocampal area CA3 ofMecp2knockout mice

5. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

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1. Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants;International Journal of Molecular Sciences;2022-11-21

2. Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome;Italian Journal of Pediatrics;2022-09-07

3. Literature Cases Summarized Based on Their Polysomnographic Findings in Rett Syndrome;International Journal of Environmental Research and Public Health;2022-03-14