De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

(2013) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

(2012) Hirotomo Saitsu et al.   ANNALS OF NEUROLOGY

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

(2012) Hirotomo Saitsu et al.   EPILEPSIA

Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient

(2012) Yoshinao Wada et al.   GLYCOBIOLOGY

A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS

(2012) Yukiko Kondo et al.   JOURNAL OF HUMAN GENETICS

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

(2011) Hao Hu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

(2010) Manju A. Kurian et al.   BRAIN

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

(2010) Hirotomo Saitsu et al.   EPILEPSIA

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

What causes epileptic encephalopathy in infancy?: The answer may lie in our genes

(2010) K. D. Holland et al.   NEUROLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The role of nucleotide sugar transporters in development of eukaryotes

(2010) Li Liu et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Cutis laxa with frontoparietal cortical malformation: A novel type of congenital disorder of glycosylation

(2008) Tohru Okanishi et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

(2008) Hirotomo Saitsu et al.   NATURE GENETICS