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

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Up to 70% of epilepsies have been reported to be related to genetic factors with a continuously enlarging fraction known to be caused by monogenetic alterations [3]. Even with the advent of massive parallel sequencing, the recognition of classical epilepsy-syndromes can be key to rapid diagnosis, which can guide therapy and provide valuable information on prognosis. This report emphasizes key features of Kohlschütter-Tönz Syndrome (KTS), a clinically recognizable cause of epilepsy caused by biallelic mutations in the ROGDI-gene.

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