A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Tommaso Pippucci; Antonia Parmeggiani; Flavia Palombo; Alessandra Maresca; Andrea Angius; Laura Crisponi; Francesco Cucca; Rocco Liguori; Maria Lucia Valentino; Marco Seri; Valerio Carelli

doi:10.1371/journal.pone.0082154

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Peer-reviewed

Research Article

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Tommaso Pippucci,

Affiliation U.O. Genetica Medica, Policlinico Sant’Orsola-Malpighi, University of Bologna, Bologna, Italy
⨯
Antonia Parmeggiani,

Affiliations IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, Dipartimento di Scienze Mediche Chirurgiche, University of Bologna, Bologna, Italy
⨯
Flavia Palombo,

Affiliation U.O. Genetica Medica, Policlinico Sant’Orsola-Malpighi, University of Bologna, Bologna, Italy
⨯
Alessandra Maresca,

Affiliations IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), University of Bologna, Bologna, Italy
⨯
Andrea Angius,

Affiliations Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy, Center for Advanced Studies, Research, and Development in Sardinia (CRS4), AGCT Program, Parco Scientifico e tecnologico della Sardegna, Pula, Italy
⨯
Laura Crisponi,

Affiliation Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy
⨯
Francesco Cucca,

Affiliations Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy, Dipartimento di Scienze Biomediche, University of Sassari, Sassari, Italy
⨯
Rocco Liguori,

Affiliations IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), University of Bologna, Bologna, Italy
⨯
Maria Lucia Valentino,

Affiliations IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), University of Bologna, Bologna, Italy
⨯
Marco Seri ,

* E-mail: marco.seri@unibo.it

Affiliations U.O. Genetica Medica, Policlinico Sant’Orsola-Malpighi, University of Bologna, Bologna, Italy, Dipartimento di Scienze Mediche Chirurgiche, University of Bologna, Bologna, Italy
⨯
Valerio Carelli

Affiliations IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), University of Bologna, Bologna, Italy
⨯

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Tommaso Pippucci,
Antonia Parmeggiani,
Flavia Palombo,
Alessandra Maresca,
Andrea Angius,
Laura Crisponi,
Francesco Cucca,
Rocco Liguori,
Maria Lucia Valentino,
Marco Seri

Published: December 16, 2013
https://doi.org/10.1371/journal.pone.0082154

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