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Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
BACKGROUND Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in geneticExpand
The in-depth evaluation of suspected mitochondrial disease.
Mitochondrial disease confirmation and establishment of a specific molecular diagnosis requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial disease, multi-organExpand
A modern approach to the treatment of mitochondrial disease
Opinion statementThe treatment of mitochondrial disease varies considerably. Most experts use a combination of vitamins, optimize patients’ nutrition and general health, and prevent worsening ofExpand
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy
The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage‐gated sodium channel Nav1.6. More than 20% ofExpand
Mitochondrial Disease: A Practical Approach for Primary Care Physicians
Notorious variability in the presentation of mitochondrial disease in the infant and young child complicates its clinical diagnosis. Mitochondrial disease is not a single entity but, rather, aExpand
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Purpose:The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and treatment. This statement is intended forExpand
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) imaging (MRI) hasExpand
Development of an Objective Autism Risk Index Using Remote Eye Tracking.
OBJECTIVE Abnormal eye gaze is a hallmark characteristic of autism spectrum disorder (ASD), and numerous studies have identified abnormal attention patterns in ASD. The primary aim of the presentExpand
Efficacy of Low-Dose Buspirone for Restricted and Repetitive Behavior in Young Children with Autism Spectrum Disorder: A Randomized Trial.
OBJECTIVES To determine safety and efficacy of the 5HT1A serotonin partial agonist buspirone on core autism and associated features in children with autism spectrum disorder (ASD). STUDY DESIGNExpand
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats
We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3Expand