Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

(2016) William A. Gahl et al.   MOLECULAR GENETICS AND METABOLISM

Prevalent presence of periodic actin–spectrin-based membrane skeleton in a broad range of neuronal cell types and animal species

(2016) Jiang He et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Early Myoclonic Encephalopathy in 9q33-q34 Deletion EncompassingSTXBP1andSPTAN1

(2015) Francesco Nicita et al.   ANNALS OF HUMAN GENETICS

SPTAN1 encephalopathy: distinct phenotypes and genotypes

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

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG and TOR1A

(2012) Ian M. Campbell et al.   GENETICS IN MEDICINE

Hypoxia-Induced Alternative Splicing in Endothelial Cells

(2012) Julia E. Weigand et al.   PLoS One

Cell organization, growth, and neural and cardiac development require  II-spectrin

(2011) M. C. Stankewich et al.   JOURNAL OF CELL SCIENCE

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering

(2011) Thomas C. Markello et al.   MOLECULAR GENETICS AND METABOLISM

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

Characterization and expression of a heart-selective alternatively spliced variant of αII-spectrin, cardi+, during development in the rat

(2010) Yinghua Zhang et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion

(2008) Keiko Ohnari et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES