An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

(2016) Candace T. Myers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Longitudinal course of epilepsy in Rett syndrome and related disorders

(2016) Daniel C. Tarquinio et al.   BRAIN

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

Rett syndrome: a wide clinical and autonomic picture

(2016) G. Pini et al.   Orphanet Journal of Rare Diseases

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

(2015) Lena Damaj et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS

(2012) Sanjeev Rajakulendran et al.   Nature Reviews Neurology

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Epilepsy in Rett syndrome-The experience of a National Rett Center

(2010) Andreea Nissenkorn et al.   EPILEPSIA

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols