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

Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP

(2013) GHAYDA M. MIRZAA et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism

(2013) Steven Klein et al.   Autism Research

Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder

(2013) Mark D. Shen et al.   BRAIN

Somatic Overgrowth Predisposes to Seizures in Autism Spectrum Disorders

(2013) Giulia Valvo et al.   PLoS One

PTEN signaling in autism spectrum disorders

(2012) Jing Zhou et al.   CURRENT OPINION IN NEUROBIOLOGY

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

(2012) Marjo S van der Knaap et al.   LANCET NEUROLOGY

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit

(2012) Elena Jeworutzki et al.   NEURON

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

(2011) Tania López-Hernández et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early Generalized Overgrowth in Boys With Autism

(2011) Katarzyna Chawarska   ARCHIVES OF GENERAL PSYCHIATRY

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

(2011) Tania López-Hernández et al.   HUMAN MOLECULAR GENETICS

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model

(2011) Anna Duarri et al.   NEUROBIOLOGY OF DISEASE

Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1

(2011) Federico Sicca et al.   NEUROBIOLOGY OF DISEASE

Macrocephaly in Children With Autism Spectrum Disorders

(2011) Lucy Barnard-Brak et al.   PEDIATRIC NEUROLOGY

Sibling Recurrence and the Genetic Epidemiology of Autism

(2010) John N. Constantino et al.   AMERICAN JOURNAL OF PSYCHIATRY

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

(2010) Kim L. McBride et al.   Autism Research

Autism and epilepsy: Historical perspective

(2010) Roberto Tuchman et al.   BRAIN & DEVELOPMENT

The β1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis

(2010) Maria S. Brignone et al.   HUMAN MOLECULAR GENETICS

United States Head Circumference Growth Reference Charts: Birth to 21 Years

(2010) Jonathan D. Rollins et al.   JOURNAL OF PEDIATRICS

Genetic evaluation and counseling for epilepsy

(2010) Deb K. Pal et al.   Nature Reviews Neurology

GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system

(2008) Linda Favre-Kontula et al.   GLIA

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

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