Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion

Seizure. 2017 Aug:50:118-120. doi: 10.1016/j.seizure.2017.06.017. Epub 2017 Jun 15.

Authors

Raphael Johannes Morscher¹, Christian Rauscher², Wolfgang Sperl², Olaf Rittinger²

Affiliations

¹ Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: raphael.morscher@pmu.ac.at.
² Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

PMID: 28651123
DOI: 10.1016/j.seizure.2017.06.017

No abstract available

Keywords: Enamel defect; Infantile seizure onset; Kohlschütter-Tönz syndrome; Psychomotor developmental delay; ROGDI-gene deletion.

Publication types

Case Reports
Video-Audio Media

MeSH terms

Amelogenesis Imperfecta / diagnostic imaging
Amelogenesis Imperfecta / genetics*
Amelogenesis Imperfecta / pathology
Amelogenesis Imperfecta / physiopathology
Brain / diagnostic imaging
Child
Dementia / diagnostic imaging
Dementia / genetics*
Dementia / pathology
Dementia / physiopathology
Dental Enamel / pathology
Developmental Disabilities / diagnostic imaging
Developmental Disabilities / genetics
Developmental Disabilities / physiopathology
Epilepsy / diagnostic imaging
Epilepsy / genetics*
Epilepsy / pathology
Epilepsy / physiopathology
Gene Deletion*
Humans
Male
Seizures / diagnostic imaging
Seizures / genetics
Seizures / physiopathology

Supplementary concepts

Kohlschutter Tonz syndrome