A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy

Causes of mortality in early infantile epileptic encephalopathy: A systematic review

(2018) Graciane Radaelli et al.   EPILEPSY & BEHAVIOR

Critical roles of αII spectrin in brain development and epileptic encephalopathy

(2018) Yu Wang et al.   JOURNAL OF CLINICAL INVESTIGATION

The Axon Initial Segment: An Updated Viewpoint

(2018) Christophe Leterrier   JOURNAL OF NEUROSCIENCE

SPTAN1 encephalopathy: distinct phenotypes and genotypes

(2015) Jun Tohyama et al.   JOURNAL OF HUMAN GENETICS

Epileptic Encephalopathies: New Genes and New Pathways

(2014) Sahar Esmaeeli Nieh et al.   Neurotherapeutics

Spectrin: Structure, function and disease

(2013) Rui Zhang et al.   Science China-Life Sciences

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

(2010) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA