Tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
Disentangling the heterogeneity of autism spectrum disorder through genetic findings
SS Jeste, DH Geschwind - Nature Reviews Neurology, 2014 - nature.com
Autism spectrum disorder (ASD) represents a heterogeneous group of disorders, which
presents a substantial challenge to diagnosis and treatment. Over the past decade …
presents a substantial challenge to diagnosis and treatment. Over the past decade …
Model of autism: increased ratio of excitation/inhibition in key neural systems
JLR Rubenstein, MM Merzenich - Genes, Brain and Behavior, 2003 - Wiley Online Library
Autism is a severe neurobehavioral syndrome, arising largely as an inherited disorder,
which can arise from several diseases. Despite recent advances in identifying some genes …
which can arise from several diseases. Despite recent advances in identifying some genes …
Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist
PJ De Vries, VH Whittemore, L Leclezio, AW Byars… - Pediatric …, 2015 - Elsevier
Background Tuberous sclerosis complex is a multisystem genetic disorder with a range of
physical manifestations that require evaluation, surveillance, and management. Individuals …
physical manifestations that require evaluation, surveillance, and management. Individuals …
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
G Barcia, MR Fleming, A Deligniere, VR Gazula… - Nature …, 2012 - nature.com
Malignant migrating partial seizures of infancy (MMPSI) is a rare epileptic encephalopathy of
infancy that combines pharmacoresistant seizures with developmental delay. We performed …
infancy that combines pharmacoresistant seizures with developmental delay. We performed …
Characterizing the interplay between autism spectrum disorder and comorbid medical conditions: An integrative review
C Tye, AK Runicles, AJO Whitehouse… - Frontiers in …, 2019 - frontiersin.org
Co-occurring medical disorders and associated physiological abnormalities in individuals
with autism spectrum disorder (ASD) may provide insight into causal pathways or underlying …
with autism spectrum disorder (ASD) may provide insight into causal pathways or underlying …
Autistic spectrum disorders: A review of clinical features, theories and diagnosis
M Fakhoury - International journal of developmental neuroscience, 2015 - Elsevier
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders that is among the
most severe in terms of prevalence, morbidity and impact to the society. It is characterized by …
most severe in terms of prevalence, morbidity and impact to the society. It is characterized by …
Epilepsy in patients with autism: links, risks and treatment challenges
FMC Besag - Neuropsychiatric disease and treatment, 2017 - Taylor & Francis
Autism is more common in people with epilepsy, approximately 20%, and epilepsy is more
common in people with autism with reported rates of approximately 20%. However, these …
common in people with autism with reported rates of approximately 20%. However, these …
[图书][B] Assessment of social competence in children
M Semrud-Clikeman, M Semrud-Clikeman - 2007 - Springer
39 interacting with others and may even approach people for attention more often than
children without ADHD. In addition, the intensity the children with ADHD show in their …
children without ADHD. In addition, the intensity the children with ADHD show in their …
The genetics of autistic disorders and its clinical relevance: a review of the literature
CM Freitag - Molecular psychiatry, 2007 - nature.com
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the
narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially …
narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially …