[HTML][HTML] FMR1 and the fragile X syndrome: human genome epidemiology review

DC Crawford, JM Acuña, SL Sherman - Genetics in medicine, 2001 - Elsevier
The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of
the most common forms of inherited mental retardation. The cognitive, behavioral, and …

Clinical genetic evaluation of the child with mental retardation or developmental delays

JB Moeschler, M Shevell, Committee on Genetics - Pediatrics, 2006 - publications.aap.org
This clinical report describes the clinical genetic evaluation of the child with developmental
delays or mental retardation. The purpose of this report is to describe the optimal clinical …

Imbalance of neocortical excitation and inhibition and altered UP states reflect network hyperexcitability in the mouse model of fragile X syndrome

JR Gibson, AF Bartley, SA Hays… - Journal of …, 2008 - journals.physiology.org
Despite the pronounced neurological deficits associated with mental retardation and autism,
it is unknown if altered neocortical circuit function occurs in these prevalent disorders. Here …

Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report

LJ Miller, DN McIntosh, J McGrath… - American journal of …, 1999 - Wiley Online Library
The fragile X mutation and fragile X syndrome are associated with hyperarousal,
hyperactivity, aggression, and anxiety. These may be related to strong reactions to auditory …

Epilepsy in fragile X syndrome

E Berry-Kravis - Developmental medicine and child neurology, 2002 - cambridge.org
Epilepsy is reported to occur in 10 to 20% of individuals with fragile X syndrome (FXS). A
frequent seizure/EEG pattern in FXS appears to resemble that of benign focal epilepsy of …

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness

CDM Van Karnebeek, MCE Jansweijer… - European journal of …, 2005 - nature.com
There are no guidelines available for diagnostic studies in patients with mental retardation
(MR) established in an evidence-based manner. Here we report such study, based on …

Tactile defensiveness and impaired adaptation of neuronal activity in the Fmr1 knock-out mouse model of autism

CX He, DA Cantu, SS Mantri, WA Zeiger… - Journal of …, 2017 - Soc Neuroscience
Sensory hypersensitivity is a common symptom in autism spectrum disorders (ASDs),
including fragile X syndrome (FXS), and frequently leads to tactile defensiveness. In mouse …

Habituation is altered in neuropsychiatric disorders—A comprehensive review with recommendations for experimental design and analysis

TA McDiarmid, AC Bernardos, CH Rankin - Neuroscience & Biobehavioral …, 2017 - Elsevier
Abnormalities in the simplest form of learning, habituation, have been reported in a variety of
neuropsychiatric disorders as etiologically diverse as Autism Spectrum Disorder, Fragile X …

Altered neocortical rhythmic activity states in Fmr1 KO mice are due to enhanced mGluR5 signaling and involve changes in excitatory circuitry

SA Hays, KM Huber, JR Gibson - Journal of Neuroscience, 2011 - Soc Neuroscience
Despite the pronounced neurological deficits associated with mental retardation and autism,
the degree to which neocortical circuit function is altered remains unknown. Here, we study …

The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome

D Hessl, J Dyer-Friedman, B Glaser, J Wisbeck… - …, 2001 - publications.aap.org
Objective. Fragile X syndrome, caused by mutations in a single gene of the X chromosome
(FMR1), is associated with neurobehavioral characteristics including social deficits with …