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Brain : a Journal of Neurology
|
April 20, 2013
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum
Amy McTague, Richard Appleton, Shivaram Avula, et al.
Epilepsia
|
June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Annapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Epilepsia
|
April 28, 2023
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies
Heather E Olson, Scott Demarest, Elia Pestana-Knight, et al.
Journal of Neurodevelopmental Disorders
|
September 17, 2021
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
Heather E Olson, Carolyn I Daniels, Isabel Haviland, et al.
Annals of Neurology
|
February 11, 2026
Diverse Genetic Etiologies of Unilateral Polymicrogyria
Abbe Lai, Jennifer E Neil, Shyam K Akula, et al.
NPJ Genomic Medicine
|
April 6, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Ali AlMail, Ahmed Jamjoom, Amy Pan, et al.
NPJ Genomic Medicine
|
May 25, 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?
Leo Arkush, Kristina Karandasheva, Frédérique Ouellet, et al.
Epilepsia
|
January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region
McKenna Kelly, Meredith Park, Ivana Mihalek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.
Human Mutation
|
October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria
Ingo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Page
of 36
Search research articles
Search
Showing results (271-280 of 353) with videos related to
Sort By:
Page
of 36
Brain : a Journal of Neurology
|
April 20, 2013
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum
Amy McTague, Richard Appleton, Shivaram Avula, et al.
Epilepsia
|
June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Annapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Epilepsia
|
April 28, 2023
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies
Heather E Olson, Scott Demarest, Elia Pestana-Knight, et al.
Journal of Neurodevelopmental Disorders
|
September 17, 2021
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
Heather E Olson, Carolyn I Daniels, Isabel Haviland, et al.
Annals of Neurology
|
February 11, 2026
Diverse Genetic Etiologies of Unilateral Polymicrogyria
Abbe Lai, Jennifer E Neil, Shyam K Akula, et al.
NPJ Genomic Medicine
|
April 6, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Ali AlMail, Ahmed Jamjoom, Amy Pan, et al.
NPJ Genomic Medicine
|
May 25, 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?
Leo Arkush, Kristina Karandasheva, Frédérique Ouellet, et al.
Epilepsia
|
January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region
McKenna Kelly, Meredith Park, Ivana Mihalek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.
Human Mutation
|
October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria
Ingo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Page
of 36