title: Kohlschütter-Tönz syndrome in siblings without ROGDI mutation.
abstract: BACKGROUND
  Kohlschütter-Tönz syndrome is a rare neurodegenerative disorder presenting with intractable seizures, developmental regression, and characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta. Recently, mutations in ROGDI were identified in part of Kohlschütter-Tönz syndrome cases, but the siblings reported here do not have a mutation in the ROGDI gene, showing that there is genetic heterogeneity in Kohlschütter-Tönz syndrome.
  
  
  OBJECTIVE
  Report two siblings that have Kohlschütter-Tönz syndrome.
  
  
  CONCLUSIONS
  Early onset of seizures and lack of the ability to walk without support may be signs of non-ROGDI mutations in Kohlschütter-Tönz syndrome patients.
authors.forename: C M
authors.initials: CM
authors.lastname: De Souza
authors.forename: J
authors.initials: J
authors.lastname: Souza
authors.forename: C M G
authors.initials: CM
authors.lastname: Furtado
authors.forename: J L T
authors.initials: JL
authors.lastname: Cleto
authors.forename: S A
authors.initials: SA
authors.lastname: Antoniuk
authors.affiliation: Rua Saldanha Marinho, 1782, Curitiba Parana 80730-180 Brazil; Tel: +55-41-33066838, e-mail: genetika@genetika.com.br.
authors.forename: S
authors.initials: S
authors.lastname: Raskin