Recessive mutations inSLC13A5result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

(2015) Eva M. Reinthaler et al.   ANNALS OF NEUROLOGY

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

(2015) Katia Hardies et al.   HUMAN MOLECULAR GENETICS

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

(2014) Julien Thevenon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epilepsy: Old Syndromes, New Genes

(2014) Sarah Weckhuysen et al.   Current Neurology and Neuroscience Reports

The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells

(2014) Sean David Hughes et al.   JOURNAL OF NEUROCHEMISTRY

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

(2014) Julian Schubert et al.   NATURE GENETICS

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

(2013) Alex R Paciorkowski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ion Channels, Channelopathies, and Tooth Formation

(2013) X. Duan   JOURNAL OF DENTAL RESEARCH

SLC13 family of Na+-coupled di- and tri-carboxylate/sulfate transporters

(2013) M.J. Bergeron et al.   MOLECULAR ASPECTS OF MEDICINE

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Sodium-coupled dicarboxylate and citrate transporters from the SLC13 family

(2013) Ana M. Pajor   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Triheptanoin reduces seizure susceptibility in a syndrome-specific mouse model of generalized epilepsy

(2012) Tae Hwan Kim et al.   EPILEPSY RESEARCH

Structure and mechanism of a bacterial sodium-dependent dicarboxylate transporter

(2012) Romina Mancusso et al.   NATURE

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

A graphical interface for the FoldX forcefield

(2011) J. Van Durme et al.   BIOINFORMATICS

Improved structure, function and compatibility for CellProfiler: modular high-throughput image analysis software

(2011) Lee Kamentsky et al.   BIOINFORMATICS

Deletion of the Mammalian INDY Homolog Mimics Aspects of Dietary Restriction and Protects against Adiposity and Insulin Resistance in Mice

(2011) Andreas L. Birkenfeld et al.   Cell Metabolism

The effects of the ketogenic diet on behavior and cognition

(2011) Tove Hallböök et al.   EPILEPSY RESEARCH

Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells

(2011) Jessica Lamp et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

(2011) Joke Reumers et al.   NATURE BIOTECHNOLOGY

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

Anticonvulsant effects of a triheptanoin diet in two mouse chronic seizure models

(2010) Sarah Willis et al.   NEUROBIOLOGY OF DISEASE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The expanding phenotype of GLUT1-deficiency syndrome

(2009) Knut Brockmann   BRAIN & DEVELOPMENT

Mutations in the mitochondrial glutamate carrierSLC25A22in neonatal epileptic encephalopathy with suppression bursts

(2009) F Molinari et al.   CLINICAL GENETICS

Protein structure prediction on the Web: a case study using the Phyre server

(2009) Lawrence A Kelley et al.   Nature Protocols

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE