Influence of Mutation Type and Location on Phenotype in 123 Patients with Rett Syndrome

2002 ◽  
Vol 33 (2) ◽  
pp. 63-68 ◽  
Author(s):  
P. Huppke ◽  
M. Held ◽  
F. Hanefeld ◽  
W. Engel ◽  
F. Laccone
Keyword(s):  
Rett Syndrome ◽  
Mutation Type

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

2019 ◽  
Author(s):  
Carla Caffarelli ◽  
Tomai Pitinca Maria Dea ◽  
Valentina Francolini ◽  
Roberto Canitano ◽  
felice Claudio De ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Bone Disease ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

scholarly journals Methyl-CpG-binding protein 2(MECP2) mutation type is associated with disease severity in Rett syndrome

2014 ◽  
Vol 51 (3) ◽  
pp. 152-158 ◽  
Author(s):  
Vishnu Anand Cuddapah ◽  
Rajesh B Pillai ◽  
Kiran V Shekar ◽  
Jane B Lane ◽  
Kathleen J Motil ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

2008 ◽  
Vol 23 (10) ◽  
pp. 1384-1390 ◽  
Author(s):  
Teresa Temudo ◽  
Elisabete Ramos ◽  
Karin Dias ◽  
Clara Barbot ◽  
Jose P. Vieira ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders ◽  
Mecp2 Mutation ◽  
Mutation Type

Associations Among Diurnal Salivary Cortisol Patterns, Medication Use, and Behavioral Phenotype Features in a Community Sample of Rett Syndrome

2020 ◽  
Vol 125 (5) ◽  
pp. 353-368
Author(s):  
Breanne J. Byiers ◽  
Ameante Payen ◽  
Timothy Feyma ◽  
Angela Panoskaltsis-Mortari ◽  
Michael J. Ehrhardt ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Hpa Axis ◽  
Stress Responses ◽  
Salivary Cortisol ◽  
Community Sample ◽  
Neurodevelopmental Disorder ◽  
Medication Use ◽  
Behavioral Phenotype ◽  
Anticonvulsant Medication ◽  
Mutation Type

Abstract Rett syndrome (RTT) is a severe neurodevelopmental disorder resulting from mutations of the MECP2 gene. Hyperactivity of the hypothalamic-pituitary-adrenal (HPA) axis and abnormal stress responses have been observed in animal models of RTT, but little is known about HPA axis function among individuals with RTT. Diurnal salivary cortisol patterns from 30 females with RTT were examined in relation to mutation type, medication use, and features of the RTT behavioral phenotype. Cortisol patterns were significantly related to mutation severity, anticonvulsant medication status, and bruxism (tooth grinding). This study provides preliminary support for the hypothesis that RTT may be at risk for outcomes associated with aberrant HPA axis function, and that this risk may be mediated by mutation type.

Effects ofMECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype

2003 ◽  
Vol 118A (2) ◽  
pp. 103-114 ◽  
Author(s):  
Linda S. Weaving ◽  
Sarah L. Williamson ◽  
Bruce Bennetts ◽  
Mark Davis ◽  
Carolyn J. Ellaway ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
X Inactivation ◽  
Mutation Type

scholarly journals The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

2011 ◽  
Vol 5 (1) ◽  
pp. 442-449 ◽  
Author(s):  
Deidra Young ◽  
Ami Bebbington ◽  
Nick de Klerk ◽  
Carol Bower ◽  
Lakshmi Nagarajan ◽  
...  
Keyword(s):  
Health Status ◽  
Rett Syndrome ◽  
Service Use ◽  
Mecp2 Mutation ◽  
The Relationship ◽  
Over Time ◽  
Mutation Type

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

2000 ◽  
Vol 47 (5) ◽  
pp. 670-679 ◽  
Author(s):  
Ruthie E. Amir ◽  
Ignatia B. Van Den Veyver ◽  
Rebecca Schultz ◽  
Denise M. Malicki ◽  
Charles Q. Tran ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Mutation Type

scholarly journals Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Carla Caffarelli ◽  
Stefano Gonnelli ◽  
Maria Dea Tomai Pitinca ◽  
Silvia Camarri ◽  
Antonella Al Refaie ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Bone Disease ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type
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