Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

NaV1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms

(2012) S. Han et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

(2011) Olga Peñagarikano et al.   CELL

Fragile X Syndrome: The GABAergic System and Circuit Dysfunction

(2011) Scott M. Paluszkiewicz et al.   DEVELOPMENTAL NEUROSCIENCE

Dravet syndrome: The long-term outcome

(2011) Pierre Genton et al.   EPILEPSIA

Comorbidities and predictors of health-related quality of life in Dravet syndrome

(2011) Andreas Brunklaus et al.   EPILEPSIA

Autism in Dravet syndrome: Prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation

(2011) Bing-Mei Li et al.   EPILEPSY & BEHAVIOR

Impaired inhibitory control of cortical synchronization in fragile X syndrome

(2011) Scott M. Paluszkiewicz et al.   JOURNAL OF NEUROPHYSIOLOGY

Neocortical excitation/inhibition balance in information processing and social dysfunction

(2011) Ofer Yizhar et al.   NATURE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Beyond classical benzodiazepines: novel therapeutic potential of GABAA receptor subtypes

(2011) Uwe Rudolph et al.   NATURE REVIEWS DRUG DISCOVERY

Genetics of autism spectrum disorders

(2011) Daniel H. Geschwind   TRENDS IN COGNITIVE SCIENCES

Genetics and Function of Neocortical GABAergic Interneurons in Neurodevelopmental Disorders

(2011) E. Rossignol   NEURAL PLASTICITY

The Intense World Theory – A Unifying Theory of the Neurobiology of Autism

(2010) Kamila Markram et al.   Frontiers in Human Neuroscience

NaV1.1 channels and epilepsy

(2010) William A. Catterall et al.   JOURNAL OF PHYSIOLOGY-LONDON

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

(2010) Hsiao-Tuan Chao et al.   NATURE

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS NEUROSCIENCE

Dlx1&2 and Mash1 Transcription Factors Control MGE and CGE Patterning and Differentiation through Parallel and Overlapping Pathways

(2009) Jason E. Long et al.   CEREBRAL CORTEX

Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy

(2009) J. C. Oakley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A

(2009) Krista Mahoney et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

An analysis of candidate autism loci on chromosome 2q24-q33: Evidence for association to theSTK39gene

(2008) Nicolas Ramoz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Generation of Cre-transgenic mice using Dlx1/Dlx2 enhancers and their characterization in GABAergic interneurons

(2008) Gregory B. Potter et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS