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De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio, Anna; Esposito, Alessandro; Kato, Mitsuhiro; Saitsu, Hirotomo; Mei, Davide; Marini, Carla; Conti, Valerio; Nakashima, Mitsuko; Okamoto, Nobuhiko; Olmez Turker, Akgun; Albuz, Burcu; Semerci Gündüz, C Nur; Yanagihara, Keiko; Belmonte, Elisa; Maragliano, Luca; Ramsey, Keri; Balak, Chris; Siniard, Ashley; Narayanan, Vinodh; Ohba, Chihiro; Shiina, Masaaki; Ogata, Kazuhiro; Matsumoto, Naomichi; Benfenati, Fabio; Guerrini, Renzo.
Affiliation
  • Fassio A; Department of Experimental Medicine, University of Genoa, Genoa, Italy.
  • Esposito A; Center of Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy.
  • Kato M; Department of Experimental Medicine, University of Genoa, Genoa, Italy.
  • Saitsu H; Center of Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy.
  • Mei D; Department of Paediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Marini C; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Conti V; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • Nakashima M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • Okamoto N; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • Olmez Turker A; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Albuz B; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Semerci Gündüz CN; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Yanagihara K; Private Clinic, Denizli, Turkey.
  • Belmonte E; Department of Medical Genetics, Pamukkale University Hospital, Denizli, Turkey.
  • Maragliano L; Department of Medical Genetics, Pamukkale University Hospital, Denizli, Turkey.
  • Ramsey K; Department of Paediatric Neurology, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Balak C; Department of Experimental Medicine, University of Genoa, Genoa, Italy.
  • Siniard A; Center of Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy.
  • Narayanan V; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Ohba C; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Shiina M; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Benfenati F; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Guerrini R; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Brain ; 141(6): 1703-1718, 2018 06 01.
Article in En | MEDLINE | ID: mdl-29668857
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Vacuolar Proton-Translocating ATPases / Epilepsy / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Animals / Child / Female / Humans / Male Language: En Journal: Brain Year: 2018 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Vacuolar Proton-Translocating ATPases / Epilepsy / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Animals / Child / Female / Humans / Male Language: En Journal: Brain Year: 2018 Document type: Article Affiliation country: Country of publication: