Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

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

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Evolution of spectrin function in cytoskeletal and membrane networks

(2009) Anthony J. Baines   BIOCHEMICAL SOCIETY TRANSACTIONS

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin

(2007) Vann Bennett et al.   TRENDS IN MOLECULAR MEDICINE