CHAMP1 Mutations cause Refractory Infantile Myoclonic Epilepsy

Revital Ben-Haim*, Eli Heyman, Lilach Benyamini, Daniel Shapira, Dorit Lev, Michal Tzadok, Tally Lerman-Sagie, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Iwama, Mirit Lazinger, Haim Bassan

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

The chromosome alignment maintaining phosphoprotein 1 (CHAMP1) gene has a key role in neurodevelopment. It is involved in kinetochore-microtubule attachment and in the regulation of chromosomes alignment during mitosis. So far, 17 cases of CHAMP1 mutations have been reported with a common clinical picture of developmental delay and intellectual disability, dysmorphic facial features, hypotonia and/or spasticity, and microcephaly. Four patients had epilepsy of whom three had focal seizures and one had generalized epilepsy. We report two new cases, which have in addition to developmental delay, refractory myoclonic epilepsy. These cases suggest that the phenotypic spectrum of CHAMP1 mutations may be broader and includes refractory myoclonic epilepsy as well.

Original languageEnglish
Pages (from-to)27-32
Number of pages6
JournalJournal of Pediatric Neurology
Volume18
Issue number1
DOIs
StatePublished - 2020

Keywords

  • CHAMP1 Gene
  • developmental delay
  • myoclonic epilepsy

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