Autism, epilepsy, and synaptopathies: a not rare association

Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment

(2016) Pedro Rodenas-Cuadrado et al.   BMC Medical Genetics

Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children

(2016) Renée J. Zwanenburg et al.   Journal of Neurodevelopmental Disorders

Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects

(2016) Carla Lintas et al.   Journal of Neurodevelopmental Disorders

Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons

(2016) F. Yi et al.   SCIENCE

SYNGAP1: Mind the Gap

(2016) Nallathambi Jeyabalan et al.   Frontiers in Cellular Neuroscience

RELN Mutations in Autism Spectrum Disorder

(2016) Dawn B. Lammert et al.   Frontiers in Cellular Neuroscience

Reciprocal regulation of autism-related genes MeCP2 and PTEN via microRNAs

(2016) Jing-Wen Lyu et al.   Scientific Reports

Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder

(2015) Richard E. Frye   EPILEPSY & BEHAVIOR

Autism spectrum disorder and epilepsy: Disorders with a shared biology

(2015) Bo Hoon Lee et al.   EPILEPSY & BEHAVIOR

Hyperactivity of Newborn Pten Knock-out Neurons Results from Increased Excitatory Synaptic Drive

(2015) M. R. Williams et al.   JOURNAL OF NEUROSCIENCE

Seizure-dependent mTOR activation in 5-HT neurons promotes autism-like behaviors in mice

(2015) John J. McMahon et al.   NEUROBIOLOGY OF DISEASE

Autism and Epilepsy: Exploring the Relationship Using Experimental Models

(2015) Carl E. Stafstrom et al.   Epilepsy Currents

Autism and Cognition Within Epilepsy: Social Matters

(2015) Roberto Tuchman   Epilepsy Currents

Role of the cytoplasmic isoform of RBFOX1/A2BP1 in establishing the architecture of the developing cerebral cortex

(2015) Nanako Hamada et al.   Molecular Autism

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

(2014) Maria Marchese et al.   BMC Medical Genetics

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

(2014) Przemyslaw Szafranski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The mTOR signaling pathway and neuronal stem/progenitor cell proliferation in the hippocampus are altered during the development of absence epilepsy in a genetic animal model

(2014) Emilio Russo et al.   NEUROLOGICAL SCIENCES

Seizures and EEG pattern in the 22q13.3 deletion syndrome: Clinical report of six Italian cases

(2014) Maria Grazia Figura et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Global Transcriptional and Translational Repression in Human-Embryonic-Stem-Cell-Derived Rett Syndrome Neurons

(2013) Yun Li et al.   Cell Stem Cell

Clinical Characteristics of Children with Autism Spectrum Disorder and Co-Occurring Epilepsy

(2013) Emma W. Viscidi et al.   PLoS One

Autism-related behavioral abnormalities in synapsin knockout mice

(2012) Barbara Greco et al.   BEHAVIOURAL BRAIN RESEARCH

mTOR Inhibitors in Tuberous Sclerosis Complex

(2012) Paolo Curatolo et al.   Current Neuropharmacology

Specificity Protein 1 (Sp1)-dependent Activation of the Synapsin I Gene (SYN1) Is Modulated by RE1-silencing Transcription Factor (REST) and 5′-Cytosine-Phosphoguanine (CpG) Methylation

(2012) Francesco Paonessa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Interaction between Early Life Epilepsy and Autistic-Like Behavioral Consequences: A Role for the Mammalian Target of Rapamycin (mTOR) Pathway

(2012) Delia M. Talos et al.   PLoS One

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

(2012) G. Novarino et al.   SCIENCE

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

(2011) Anna Fassio et al.   HUMAN MOLECULAR GENETICS

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

The Genetic Variation of RELN Expression in Schizophrenia and Bipolar Disorder

(2011) Galit Ovadia et al.   PLoS One

Correlation between EEG abnormalities and symptoms of autism spectrum disorder (ASD)

(2010) Akihiro Yasuhara   BRAIN & DEVELOPMENT

Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?

(2010) Amy Brooks-Kayal   BRAIN & DEVELOPMENT

Polysomnographic assessment of sleep disturbances in children with developmental disabilities and seizures

(2010) Silvia Miano et al.   NEUROLOGICAL SCIENCES

The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum Disorders

(2009) Sarah J Spence et al.   PEDIATRIC RESEARCH