Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
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DOI: 10.1177/08830738211004736
Abstract: Kohlschütter-Tönz syndrome (OMIM 226750) is a rare disorder with autosomal recessive inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschütter-Tönz syndrome families have been reported in the literature. Early-onset epilepsy, progressive global developmental delay,… read more here.
Keywords: syndrome novel; kohlsch tter; novel rogd1; rogd1 variant ... See more keywords