Results 211 to 220 of about 579,040 (322)

`Mysoline' in the Treatment of Recalcitrant Idiopathic Major Epilepsy in Mentally Defective Children [PDF]

, 1954
T. A. Couston
openalex   +1 more source

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis, Laura Agresta, William E. Bennett Jr, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover‐Fong, Feilim Murphy, Garey Noritz, Scott Schwantes, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield   +16 more
wiley   +1 more source

Exploring the Relationship Between Antipsychotic Drug Target Genes and Epilepsy: Evidence From Food and Drug Administration Adverse Event Reporting System Database and Mendelian Randomization. [PDF]

Brain Behav
Yin Z, Zhan Z, Qiu Y, Wang M, Li J, Song B, Chen Z, Wu J, Wang Z.   +8 more
europepmc   +1 more source

STUDIES IN TRAUMATIC EPILEPSY: 3. VISUAL FITS [PDF]

, 1955
W. R. Russell, C. W. M. Whitty
openalex   +1 more source

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa, Maura Guyler, Krystal L. Tomei, Howard D. Wang   +3 more
wiley   +1 more source

Breaking the Synaptic Vesicle Cycle: Mechanistic Insights into Presynaptic Dysfunctions in Epilepsy. [PDF]

Epilepsy Curr
Jiang K, Yang LT, Xue M.
europepmc   +1 more source

EPILEPSY AND ITS TREATMENT [PDF]

, 1904
William Spratling
openalex   +1 more source

Out with prolactin, in with neurofilament light and glial fibrillary acidic protein. [PDF]

Epilepsy Curr
Andrade DM.
europepmc   +1 more source

CONSIDERATIONS ON THE PATHOLOY AND THERAPEUTICS OF EPILEPSY [PDF]

, 1883
J. Leonard Corning
openalex   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source