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Alec Aeby

Showing results (41-50 of 52) with videos related to

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Epilepsia|May 3, 2025
On-scalp magnetoencephalography based on optically pumped magnetometers to investigate temporal lobe epilepsyOdile Feys, Vincent Wens, Chantal Depondt, et al.
Human Molecular Genetics|October 7, 2021
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathyArthur Macha, Filip Liebsch, Steffen Fricke, et al.
Science Advances|October 13, 2023
Molecular basis of ClC-6 function and its impairment in human diseaseBing Zhang, Sensen Zhang, Maya M Polovitskaya, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 8, 2021
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patientsMarie Le Roux, Magalie Barth, Sophie Gueden, et al.
European Journal of Medical Genetics|July 1, 2025
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disordersSebastian Neuens, Julie Soblet, Aurelie Penninckx, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
Brain : a Journal of Neurology|May 1, 2010
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesisMichèl A Willemsen, Marcel M Verbeek, Erik-Jan Kamsteeg, et al.
Neurology|June 26, 2025
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function VariantsAlessandra Rossi, Susan X N Lin, Nathan L Absalom, et al.
Nature Genetics|June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseGillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
The Lancet. Neurology|November 5, 2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control studyGillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, et al.
Pageof 6

Showing results (41-50 of 52) with videos related to

Sort By:
Pageof 6
Epilepsia|May 3, 2025
On-scalp magnetoencephalography based on optically pumped magnetometers to investigate temporal lobe epilepsyOdile Feys, Vincent Wens, Chantal Depondt, et al.
Human Molecular Genetics|October 7, 2021
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathyArthur Macha, Filip Liebsch, Steffen Fricke, et al.
Science Advances|October 13, 2023
Molecular basis of ClC-6 function and its impairment in human diseaseBing Zhang, Sensen Zhang, Maya M Polovitskaya, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 8, 2021
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patientsMarie Le Roux, Magalie Barth, Sophie Gueden, et al.
European Journal of Medical Genetics|July 1, 2025
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disordersSebastian Neuens, Julie Soblet, Aurelie Penninckx, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
Brain : a Journal of Neurology|May 1, 2010
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesisMichèl A Willemsen, Marcel M Verbeek, Erik-Jan Kamsteeg, et al.
Neurology|June 26, 2025
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function VariantsAlessandra Rossi, Susan X N Lin, Nathan L Absalom, et al.
Nature Genetics|June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseGillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
The Lancet. Neurology|November 5, 2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control studyGillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, et al.
Pageof 6