‘Neonatal’ Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

(2013) Hirofumi Kodera et al.   EPILEPSIA

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

(2013) K. Nakamura et al.   NEUROLOGY

Glutamate Receptor 1 Phosphorylation at Serine 831 and 845 Modulates Seizure Susceptibility and Hippocampal Hyperexcitability after Early Life Seizures

(2012) S. N. Rakhade et al.   JOURNAL OF NEUROSCIENCE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Clinical spectrum of SCN2A mutations

(2011) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia

(2011) Lisa L. Murphy et al.   HEART RHYTHM

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

(2010) Yunxiang Liao et al.   BRAIN

Axon initial segment dysfunction in epilepsy

(2010) Verena C. Wimmer et al.   JOURNAL OF PHYSIOLOGY-LONDON

Voltage-gated sodium channel organization in neurons: Protein interactions and trafficking pathways

(2010) Christophe Leterrier et al.   NEUROSCIENCE LETTERS

Heat opens axon initial segment sodium channels: A febrile seizure mechanism?

(2009) Evan A. Thomas et al.   ANNALS OF NEUROLOGY

Distinct contributions of Nav1.6 and Nav1.2 in action potential initiation and backpropagation

(2009) Wenqin Hu et al.   NATURE NEUROSCIENCE

Differential expression of exon 5 splice variants of sodium channel α subunit mRNAs in the developing mouse brain

(2009) E.V. Gazina et al.   NEUROSCIENCE

Developmental impact of a familial GABAAreceptor epilepsy mutation

(2008) Cindy Chiu et al.   ANNALS OF NEUROLOGY

Increased anxiety-like behavior in neuropsin (kallikrein-related peptidase 8) gene-deficient mice.

(2008) Yoichiro Horii et al.   BEHAVIORAL NEUROSCIENCE