J Pediatr Neurol
DOI: 10.1055/s-0039-1683449
Case Report
Georg Thieme Verlag KG Stuttgart · New York

CHAMP1 Mutations cause Refractory Infantile Myoclonic Epilepsy

Revital Ben-Haim
1  Pediatric Neurology and Development Center, Shamir Medical Center (Assaf HaRofeh Campus), Tzrifin, Israel
,
Eli Heyman
1  Pediatric Neurology and Development Center, Shamir Medical Center (Assaf HaRofeh Campus), Tzrifin, Israel
2  Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
,
Lilach Benyamini
3  Genetic Institute, Shamir Medical center (Assaf HaRofeh Campus), Tzrifin, Israel
,
Daniel Shapira
4  Maccabi Healthcare Services, Rishon LeZion, Israel
,
Dorit Lev
2  Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
5  Medical Genetics Unit, Wolfson Medical Center, Holon, Israel
,
Michal Tzadok
2  Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
6  Pediatric Neurology Unit, Edmond and Lilly Safra Children's Hospital, Chaim Sheba Medical Center
,
Tally Lerman-Sagie
2  Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
7  Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel
,
Hirotomo Saitsu
8  Department of Biochemistry, Hamamatsu University School of Medicine Japan, Hamamatsu, Japan
,
Naomichi Matsumoto
9  Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
,
Kazuhiro Iwama
9  Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
,
Mirit Lazinger
1  Pediatric Neurology and Development Center, Shamir Medical Center (Assaf HaRofeh Campus), Tzrifin, Israel
,
Haim Bassan
1  Pediatric Neurology and Development Center, Shamir Medical Center (Assaf HaRofeh Campus), Tzrifin, Israel
2  Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
› Author Affiliations
Funding This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
Further Information

Publication History

Publication Date:
22 March 2019 (eFirst)

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.

Supplementary Material