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Ingrid E Scheffer

Showing results (421-430 of 586) with videos related to

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Epilepsia|June 9, 2016
SCN8A encephalopathy: Research progress and prospectsMiriam H Meisler, Guy Helman, Michael F Hammer, et al.
Epilepsia|February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriersSarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.
Epilepsia|July 6, 2017
Response to the numbering of seizure typesRobert S Fisher, J Helen Cross, Carol D'Souza, et al.
Human Molecular Genetics|July 1, 2015
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiencyChuan Tan, Chloe Shard, Enzo Ranieri, et al.
Human Mutation|October 11, 2021
A family study implicates GBE1 in the etiology of autism spectrum disorderMiriam Fanjul-Fernández, Natasha J Brown, Peter Hickey, et al.
Orphanet Journal of Rare Diseases|April 22, 2021
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patientsSara E Mole, Angela Schulz, Eben Badoe, et al.
Brain Communications|November 21, 2025
Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsyMark F Bennett, Mark A Corbett, Thessa Kroes, et al.
Neurology|January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related EpilepsiesAndreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.
Human Molecular Genetics|May 9, 2015
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxiaJohn A Damiano, Zaid Afawi, Melanie Bahlo, et al.
Ebiomedicine|June 9, 2022
The role of common genetic variation in presumed monogenic epilepsiesCiarán Campbell, Costin Leu, Yen-Chen Anne Feng, et al.
Pageof 59

Showing results (421-430 of 586) with videos related to

Sort By:
Pageof 59
Epilepsia|June 9, 2016
SCN8A encephalopathy: Research progress and prospectsMiriam H Meisler, Guy Helman, Michael F Hammer, et al.
Epilepsia|February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriersSarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.
Epilepsia|July 6, 2017
Response to the numbering of seizure typesRobert S Fisher, J Helen Cross, Carol D'Souza, et al.
Human Molecular Genetics|July 1, 2015
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiencyChuan Tan, Chloe Shard, Enzo Ranieri, et al.
Human Mutation|October 11, 2021
A family study implicates GBE1 in the etiology of autism spectrum disorderMiriam Fanjul-Fernández, Natasha J Brown, Peter Hickey, et al.
Orphanet Journal of Rare Diseases|April 22, 2021
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patientsSara E Mole, Angela Schulz, Eben Badoe, et al.
Brain Communications|November 21, 2025
Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsyMark F Bennett, Mark A Corbett, Thessa Kroes, et al.
Neurology|January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related EpilepsiesAndreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.
Human Molecular Genetics|May 9, 2015
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxiaJohn A Damiano, Zaid Afawi, Melanie Bahlo, et al.
Ebiomedicine|June 9, 2022
The role of common genetic variation in presumed monogenic epilepsiesCiarán Campbell, Costin Leu, Yen-Chen Anne Feng, et al.
Pageof 59