The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy

Factors associated with autism spectrum disorder in children with tuberous sclerosis complex: a systematic review and meta‐analysis

(2021) Rebecca A Mitchell et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Multiplex gene and phenotype network to characterize shared genetic pathways of epilepsy and autism

(2021) Jacqueline Peng et al.   Scientific Reports

Autism spectrum disorders and epilepsy in children: A commentary on the occurrence of autism in epilepsy; how it can present differently and the challenges associated with diagnosis

(2021) Harriet Holmes et al.   EPILEPSY & BEHAVIOR

CASK related disorder: Epilepsy and developmental outcome

(2021) Thea Giacomini et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

(2021) Federico Raviglione et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry

(2021) Natasha Bertelsen et al.   Communications Biology

Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy

(2020) Farah Kanani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

(2020) Guy M. Lenk et al.   ANNALS OF NEUROLOGY

Clinical and Genetic Profile of Autism Spectrum Disorder–Epilepsy (ASD-E) Phenotype: Two Sides of the Same Coin!

(2020) Sudhakar Karunakaran et al.   CLINICAL EEG AND NEUROSCIENCE

What are the epileptic encephalopathies?

(2020) Marina Trivisano et al.   CURRENT OPINION IN NEUROLOGY

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

(2020) Andreas Brunklaus et al.   EPILEPSIA

Phenotypic and genetic spectrum of SCN 8A ‐related disorders, treatment options, and outcomes

(2020) Elena Gardella et al.   EPILEPSIA

SCN1A‐related phenotypes: Epilepsy and beyond

(2020) Ingrid E. Scheffer et al.   EPILEPSIA

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

(2020) Kensuke Matsumura et al.   Nature Communications

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

(2020) Barbara Ogórek et al.   GENETICS IN MEDICINE

RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model

(2020) Osasumwen V. Aimiuwu et al.   MOLECULAR THERAPY

Neurobiological Mechanisms of Autism Spectrum Disorder and Epilepsy, Insights from Animal Models

(2020) Teresa Sierra-Arregui et al.   NEUROSCIENCE

Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice

(2020) Ariadna Amador et al.   BRAIN

Neuroligin 2 regulates absence seizures and behavioral arrests through GABAergic transmission within the thalamocortical circuitry

(2020) Feng Cao et al.   Nature Communications

Influence of maternal zinc supplementation on the development of autism-associated behavioural and synaptic deficits in offspring Shank3-knockout mice

(2020) Yukti Vyas et al.   Molecular Brain

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

(2020) Nicola Specchio et al.   Frontiers in Neurology

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

(2020) Romina Moavero et al.   Annals of Clinical and Translational Neurology

Recent advances in gene therapy for neurodevelopmental disorders with epilepsy

(2020) Thomas J. Turner et al.   JOURNAL OF NEUROCHEMISTRY

SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons

(2020) Nerea Llamosas et al.   JOURNAL OF NEUROSCIENCE

Nanoparticle encapsulated oxytocin increases resistance to induced seizures and restores social behavior in Scn1a-derived epilepsy

(2020) Jennifer C. Wong et al.   NEUROBIOLOGY OF DISEASE

Developmental and epileptic encephalopathies: what we do and do not know

(2020) Nicola Specchio et al.   BRAIN

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis

(2020) Arthur Stefanski et al.   EPILEPSIA

Coupling of autism genes to tissue-wide expression and dysfunction of synapse, calcium signalling and transcriptional regulation

(2020) Jamie Reilly et al.   PLoS One

Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice

(2020) Reut Suliman-Lavie et al.   Nature Communications

TANGO With SCN1A: Can This Molecular Dance Defeat Dravet Syndrome?

(2020) Jacy L. Wagnon   Epilepsy Currents

Clustering Analysis Supports the Detection of Biological Processes Related to Autism Spectrum Disorder

(2020) Leonardo Emberti Gialloreti et al.   Genes

Disruption of mTOR and MAPK pathways correlates with severity in idiopathic autism

(2019) Eleonora Rosina et al.   Translational Psychiatry

Analysis of the Phenotypes in the Rett Networked Database

(2019) Elisa Frullanti et al.   International Journal of Genomics

mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia

(2019) Lena H. Nguyen et al.   JOURNAL OF NEUROSCIENCE

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

(2019) Scott Bell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

(2019) Scott T. Demarest et al.   EPILEPSIA

Megalencephaly syndromes associated with mutations of core components of the PI3K‐AKT–MTOR pathway: PIK3CA , PIK3R2 , AKT3 , and MTOR

(2019) William B. Dobyns et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

New insights on synaptic dysfunction in neuropsychiatric disorders

(2019) Gladys Lima Caldeira et al.   CURRENT OPINION IN NEUROBIOLOGY

Genetic Causes and Modifiers of Autism Spectrum Disorder

(2019) Lauren Rylaarsdam et al.   Frontiers in Cellular Neuroscience

GATOR opathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations

(2019) Philip H. Iffland et al.   EPILEPSIA

The role of PCDH19 in refractory status epilepticus

(2019) Marina Trivisano et al.   EPILEPSY & BEHAVIOR

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

(2019) Claire Bar et al.   HUMAN MUTATION

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

(2019) Julie Chow et al.   Genome Medicine

Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”

(2019) Ingrid E. Scheffer et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The phenotypic spectrum of SCN2A-related epilepsy

(2019) Claire Reynolds et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

GRIN2D/GluN2D NMDA receptor: Unique features and its contribution to pediatric developmental and epileptic encephalopathy

(2019) Chad R. Camp et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

(2018) Heather E. Olson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families

(2018) Maryam Al Shehhi et al.   European Journal of Medical Genetics

mTOR dysregulation and tuberous sclerosis-related epilepsy

(2018) Paolo Curatolo et al.   Expert Review of Neurotherapeutics

Regulation of seizure-induced MeCP2 Ser421 phosphorylation in the developing brain

(2018) Evan C. Rosenberg et al.   NEUROBIOLOGY OF DISEASE

mTOR dysregulation and tuberous sclerosis-related epilepsy

(2018) Paolo Curatolo et al.   Expert Review of Neurotherapeutics

Autism throughout genetics: Perusal of the implication of ion channels

(2018) Marwa Daghsni et al.   Brain and Behavior

Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice

(2018) Angela Peron et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

OUP accepted manuscript

(2018)   BRAIN

Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan

(2018) Masashi Mizuguchi et al.   BRAIN & DEVELOPMENT

The landscape of epilepsy-related GATOR1 variants

(2018) Sara Baldassari et al.   GENETICS IN MEDICINE

The phenotype of SCN8A developmental and epileptic encephalopathy

(2018) Elena Gardella et al.   NEUROLOGY

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

(2018) Marina Trivisano et al.   EPILEPSIA

SYNGAP1 encephalopathy

(2018) Danique R.M. Vlaskamp et al.   NEUROLOGY

Synaptopathology Involved in Autism Spectrum Disorder

(2018) Shiqi Guang et al.   Frontiers in Cellular Neuroscience

Autism spectrum disorder and epileptic encephalopathy: common causes, many questions

(2017) Siddharth Srivastava et al.   Journal of Neurodevelopmental Disorders

Autism, epilepsy, and synaptopathies: a not rare association

(2017) Roberto Keller et al.   NEUROLOGICAL SCIENCES

Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder

(2017) Annie E. Richard et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

(2017) Julia Oyrer et al.   PHARMACOLOGICAL REVIEWS

What is the Relationship Between Autism Spectrum Disorders and Epilepsy?

(2017) Roberto Tuchman   Seminars in Pediatric Neurology

Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction

(2017) Barrett J. Burger et al.   Frontiers in Pediatrics

The effect of epilepsy on autistic symptom severity assessed by the social responsiveness scale in children with autism spectrum disorder

(2016) Chanyoung Ko et al.   Behavioral and Brain Functions

The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions

(2016) Paolo Curatolo et al.   DRUGS

The spectrum of epilepsy and electroencephalographic abnormalities due toSHANK3loss-of-function mutations

(2016) J. Lloyd Holder et al.   EPILEPSIA

Epilepsy and Autism

(2016) Ashura W. Buckley et al.   Cold Spring Harbor Perspectives in Medicine

Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy

(2015) Christelle M. El Achkar et al.   EPILEPSY & BEHAVIOR

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

(2015) Lena Damaj et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Behavioral phenotypes of genetic mouse models of autism

(2015) T. M. Kazdoba et al.   GENES BRAIN AND BEHAVIOR

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

(2015) Sacha B. Nelson et al.   NEURON

Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders

(2015) M. Sahin et al.   SCIENCE

Genotype/Phenotype Correlations in Tuberous Sclerosis Complex

(2015) Paolo Curatolo et al.   Seminars in Pediatric Neurology

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

Severity of manifestations in tuberous sclerosis complex in relation to genotype

(2014) Sanjeev V. Kothare et al.   EPILEPSIA

The epidemiology and global burden of autism spectrum disorders

(2014) A. J. Baxter et al.   PSYCHOLOGICAL MEDICINE

Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders

(2014) E. Santini et al.   Science Signaling

Maternal immune activation promotes hippocampal kindling epileptogenesis in mice

(2013) Eduardo Pineda et al.   ANNALS OF NEUROLOGY

Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link?

(2013) Adriana Lo-Castro et al.   BRAIN & DEVELOPMENT

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity

(2013) Gabriele Lignani et al.   HUMAN MOLECULAR GENETICS

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

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

Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children

(2011) Amy Brooks-Kayal   EPILEPSIA

Risk and Correlates of Autism Spectrum Disorder in Children With Epilepsy: A Community-Based Study

(2011) Anne T. Berg et al.   JOURNAL OF CHILD NEUROLOGY

PSYCHIATRIC DISORDER AMONG CHILDREN WITH TUBEROUS SCLEROSIS

(2010) Ann Hunt et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Autism and Infantile Spasms in Children with Tuberous Sclerosis

(2010) Paolo Curatolo et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY