Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

Laura Ortega-Moreno; Beatriz G. Giráldez; Victor Soto-Insuga; Rebeca Losada-Del Pozo; María Rodrigo-Moreno; Cristina Alarcón-Morcillo; Gema Sánchez-Martín; Esther Díaz-Gómez; Rosa Guerrero-López; José M. Serratosa; Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI)

doi:10.1371/journal.pone.0188978

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Open Access

Peer-reviewed

Research Article

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

Laura Ortega-Moreno ,

Contributed equally to this work with: Laura Ortega-Moreno, Beatriz G. Giráldez

Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Writing – original draft

Affiliations Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Beatriz G. Giráldez ,

Contributed equally to this work with: Laura Ortega-Moreno, Beatriz G. Giráldez

Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Writing – original draft

Affiliations Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Victor Soto-Insuga,

Roles Data curation, Formal analysis, Investigation, Methodology, Validation

Affiliation Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, UAM, Madrid, Spain
⨯
Rebeca Losada-Del Pozo,

Roles Data curation, Formal analysis, Investigation, Methodology, Validation

Affiliation Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, UAM, Madrid, Spain
⨯
María Rodrigo-Moreno,

Roles Data curation, Formal analysis, Investigation, Methodology, Validation

Affiliation Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, UAM, Madrid, Spain
⨯
Cristina Alarcón-Morcillo,

Roles Data curation, Formal analysis, Investigation, Methodology, Validation

Affiliations Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Gema Sánchez-Martín,

Roles Formal analysis, Investigation, Methodology

Affiliations Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Esther Díaz-Gómez,

Roles Data curation, Formal analysis, Investigation, Methodology

Affiliations Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Rosa Guerrero-López ,

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

* E-mail: jmserratosa@me.com (JMS); rguerrero@fjd.es (RGL)

Affiliations Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
José M. Serratosa ,

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

* E-mail: jmserratosa@me.com (JMS); rguerrero@fjd.es (RGL)

Affiliations Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI)

¶Membership of the Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI) is provided in the Acknowledgments.
⨯

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

Laura Ortega-Moreno,
Beatriz G. Giráldez,
Victor Soto-Insuga,
Rebeca Losada-Del Pozo,
María Rodrigo-Moreno,
Cristina Alarcón-Morcillo,
Gema Sánchez-Martín,
Esther Díaz-Gómez,
Rosa Guerrero-López,
José M. Serratosa

Published: November 30, 2017
https://doi.org/10.1371/journal.pone.0188978

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18 Dec 2017
11:10 GMT
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Financial Disclosure Posted by rguerrero319 on 18 Dec 2017 at 11:10 GMT

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