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Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.
Lammertse, Hanna C A; van Berkel, Annemiek A; Iacomino, Michele; Toonen, Ruud F; Striano, Pasquale; Gambardella, Antonio; Verhage, Matthijs; Zara, Federico.
Affiliation
  • Lammertse HCA; Department of Clinical Genetics, Center for Neurogenomics and Cognitive Research (CNCR), University Medical Center Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands.
  • van Berkel AA; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands.
  • Iacomino M; Department of Clinical Genetics, Center for Neurogenomics and Cognitive Research (CNCR), University Medical Center Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands.
  • Toonen RF; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands.
  • Striano P; Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto G. Gaslini, Via Gerolamo Gaslini 5, 16147 Genova, Italy.
  • Gambardella A; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands.
  • Verhage M; IRCCS Istituto "G. Gaslini", Genova, Italy.
  • Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
Brain ; 143(2): 441-451, 2020 02 01.
Article in En | MEDLINE | ID: mdl-31855252
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Synaptic Transmission / Munc18 Proteins / Gain of Function Mutation Type of study: Etiology_studies Limits: Animals Language: En Journal: Brain Year: 2020 Type: Article Affiliation country: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Synaptic Transmission / Munc18 Proteins / Gain of Function Mutation Type of study: Etiology_studies Limits: Animals Language: En Journal: Brain Year: 2020 Type: Article Affiliation country: Netherlands