Novel Carboxypeptidase A6 (CPA6) Mutations Identified in Patients with Juvenile Myoclonic and Generalized Epilepsy

Open Access

Peer-reviewed

Research Article

Matthew R. Sapio,

Affiliation Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, United States of America
⨯
Monique Vessaz,

Affiliation Department of Genetic Medicine and Laboratory, University Hospitals of Geneva, Geneva, Switzerland
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Pierre Thomas,

Affiliation Department of Neurology, University Hospital, Nice, France
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Pierre Genton,

Affiliation Centre Saint Paul, Hôpital Henri Gastaut, Marseille, France
⨯
Lloyd D. Fricker ,

* E-mail: lloyd.fricker@einstein.yu.edu (LDF); annick.salzmann@hcuge.ch (AS)

Affiliations Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, United States of America, Department of Molecular Pharmacology, Albert Einstein College of Medicine, Bronx, NY, United States of America
⨯
Annick Salzmann

* E-mail: lloyd.fricker@einstein.yu.edu (LDF); annick.salzmann@hcuge.ch (AS)

Affiliation Department of Psychiatry, University of Geneva, Geneva, Switzerland
⨯

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Epilepsy
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Point mutation
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Transfection
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Mutation
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Cysteine
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Heterozygosity
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Substitution mutation
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Mutation detection
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