• A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome
• Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report
• Dental management of a pediatric patient with Kohlschutter-Tonz syndrome: A case report
• Epileptic encephalopathy and amelogenesis imperfecta: What about KohlschüttereTönz syndrome? Case report and literature review
• Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country
• INDY-From Flies to Worms, Mice, Rats, Non-Human Primates, and Humans
• Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation
• Kohlschutter-Tonz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
• Kohlschutter-Tonz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants
• Metabolic flux from the Krebs cycle to glutamate transmission tunes a neural brake on seizure onset
• Non lethal Raine syndrome and differential diagnosis
• Perampanel effectiveness in treating ROGDI-related Kohlschutter-Tonz syndrome: first reported case in China and literature review
• Rogdi Defines GABAergic Control of a Wake-promoting Dopaminergic Pathway to Sustain Sleep in Drosophila
• Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion
• SOFT syndrome with kohlschutter-Tonz syndrome
• Teaching NeuroImages: When the Teeth are the Clue to the Etiology of an Epileptic Encephalopathy
• The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome
• The Kohlschutter-Tonz syndrome associated gene Rogdi encodes a novel presynaptic protein
• The Rogdi knockout mouse is a model for Kohlschutter-Tonz syndrome