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Epilepsia
|
September 10, 2024
N-of-1 trials in epilepsy: A systematic review and lessons paving the way forward
Victoria M Defelippe, Eva H Brilstra, Willem M Otte, et al.
Cell
|
October 30, 2012
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain
Gilad D Evrony, Xuyu Cai, Eunjung Lee, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
April 18, 2020
Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force
Katja Kobow, Christopher A Reid, Erwin A van Vliet, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
Lance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
Developmental Medicine and Child Neurology
|
December 24, 2019
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures
Ingrid E Scheffer, Katja E Boysen, Amy L Schneider, et al.
Journal of Medical Genetics
|
January 5, 2021
Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
Maria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, et al.
Pediatric Neurology
|
November 20, 2022
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies
Isabel Haviland, Carolyn I Daniels, Caitlin A Greene, et al.
Neurobiology of Disease
|
September 27, 2025
Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes
Maria Sundberg, Carole Shum, Erika M Norabuena, et al.
Neurology. Genetics
|
December 19, 2022
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2022
Genetic Determinants of Sudden Unexpected Death in Pediatrics
Hyun Yong Koh, Alireza Haghighi, Christine Keywan, et al.
Page
of 36
Search research articles
Search
Showing results (231-240 of 353) with videos related to
Sort By:
Page
of 36
Epilepsia
|
September 10, 2024
N-of-1 trials in epilepsy: A systematic review and lessons paving the way forward
Victoria M Defelippe, Eva H Brilstra, Willem M Otte, et al.
Cell
|
October 30, 2012
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain
Gilad D Evrony, Xuyu Cai, Eunjung Lee, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
April 18, 2020
Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force
Katja Kobow, Christopher A Reid, Erwin A van Vliet, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
Lance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
Developmental Medicine and Child Neurology
|
December 24, 2019
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures
Ingrid E Scheffer, Katja E Boysen, Amy L Schneider, et al.
Journal of Medical Genetics
|
January 5, 2021
Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
Maria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, et al.
Pediatric Neurology
|
November 20, 2022
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies
Isabel Haviland, Carolyn I Daniels, Caitlin A Greene, et al.
Neurobiology of Disease
|
September 27, 2025
Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes
Maria Sundberg, Carole Shum, Erika M Norabuena, et al.
Neurology. Genetics
|
December 19, 2022
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2022
Genetic Determinants of Sudden Unexpected Death in Pediatrics
Hyun Yong Koh, Alireza Haghighi, Christine Keywan, et al.
Page
of 36