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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
Ian M Campbell, Svetlana A Yatsenko, Patricia Hixson, et al.
Epilepsy & Behavior : E&B
|
August 8, 2025
Immediate-use rescue medication and the epilepsy monitoring unit: experiences from an expert panel
Evelyn K Shih, Brin E Freund, Michael R Sperling, et al.
Epilepsia
|
December 4, 2023
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study
M Scott Perry, Ingrid E Scheffer, Joseph Sullivan, et al.
Pediatric Neurology
|
August 16, 2021
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
Hope Northrup, Mary E Aronow, E Martina Bebin, et al.
Epilepsia
|
October 1, 2008
Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group
Eric H Kossoff, Beth A Zupec-Kania, Per E Amark, et al.
Plos Genetics
|
December 1, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, et al.
Epilepsia Open
|
June 9, 2018
Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group
Eric H Kossoff, Beth A Zupec-Kania, Stéphane Auvin, et al.
Molecular Psychiatry
|
April 30, 2020
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Joost Kummeling, Diante E Stremmelaar, Nicholas Raun, et al.
Neurology
|
April 24, 2026
Postapproval Study for Brain-Responsive Neurostimulation for Drug-Resistant Focal Epilepsy: Three-Year Efficacy and Interim Safety Results
Dawn Eliashiv, Vikram R Rao, Barbara C Jobst, et al.
JAMA Neurology
|
October 31, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
Dianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.
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Search research articles
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Showing results (171-180 of 180) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 180 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
Ian M Campbell, Svetlana A Yatsenko, Patricia Hixson, et al.
Epilepsy & Behavior : E&B
|
August 8, 2025
Immediate-use rescue medication and the epilepsy monitoring unit: experiences from an expert panel
Evelyn K Shih, Brin E Freund, Michael R Sperling, et al.
Epilepsia
|
December 4, 2023
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study
M Scott Perry, Ingrid E Scheffer, Joseph Sullivan, et al.
Pediatric Neurology
|
August 16, 2021
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
Hope Northrup, Mary E Aronow, E Martina Bebin, et al.
Epilepsia
|
October 1, 2008
Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group
Eric H Kossoff, Beth A Zupec-Kania, Per E Amark, et al.
Plos Genetics
|
December 1, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, et al.
Epilepsia Open
|
June 9, 2018
Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group
Eric H Kossoff, Beth A Zupec-Kania, Stéphane Auvin, et al.
Molecular Psychiatry
|
April 30, 2020
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Joost Kummeling, Diante E Stremmelaar, Nicholas Raun, et al.
Neurology
|
April 24, 2026
Postapproval Study for Brain-Responsive Neurostimulation for Drug-Resistant Focal Epilepsy: Three-Year Efficacy and Interim Safety Results
Dawn Eliashiv, Vikram R Rao, Barbara C Jobst, et al.
JAMA Neurology
|
October 31, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
Dianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.
Page
of 18