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Open Access
Peer-reviewed
Research Article
In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations
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Andreea Nissenkorn ,
Contributed equally to this work with: Andreea Nissenkorn, Yael Almog
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Resources, Writing – original draft, Writing – review & editing
Affiliations Service for Rare Disorders, The Edmond and Lily Safra Children’s Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel, Pediatric Neurology Unit, The Edmond and Lily Safra Children’s Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
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Yael Almog ,
Contributed equally to this work with: Andreea Nissenkorn, Yael Almog
Roles Formal analysis, Investigation
Affiliation Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
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Inbar Adler,
Roles Formal analysis
Affiliations Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel, Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel
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Mary Safrin,
Roles Investigation
Affiliation Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
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Marina Brusel,
Roles Investigation
Affiliation Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
⨯ - Milit Marom,
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Shayel Bercovich,
Roles Formal analysis
Affiliation The Arrow Project, The Edmond and Lily Safra Children’s Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel
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Daniel Yakubovich,
Roles Formal analysis
Affiliations Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel, Neonatal Intensive Care, Edmond and Lily Safra Children’s Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel
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Michal Tzadok,
Roles Resources
Affiliations Pediatric Neurology Unit, The Edmond and Lily Safra Children’s Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
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Bruria Ben-Zeev,
Roles Resources
Affiliations Pediatric Neurology Unit, The Edmond and Lily Safra Children’s Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
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Moran Rubinstein
Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Supervision, Writing – original draft, Writing – review & editing
* E-mail: moranrub@tauex.tau.ac.il
Affiliations Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel, Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel, The Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
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In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations
- Andreea Nissenkorn,
- Yael Almog,
- Inbar Adler,
- Mary Safrin,
- Marina Brusel,
- Milit Marom,
- Shayel Bercovich,
- Daniel Yakubovich,
- Michal Tzadok,
- Bruria Ben-Zeev
- Published: February 8, 2019
- https://doi.org/10.1371/journal.pone.0211901