Results 271 to 280 of about 939,161 (398)

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim   +2 more
wiley   +1 more source

Endovascular EEG device prospective multicenter single-arm clinical trial to confirm efficacy and safety performance on patients with Intractable Epilepsy: The EPSILON IE trial protocol. [PDF]

open access: yesPLoS One
Matsumaru Y   +11 more
europepmc   +1 more source

Epilepsy and its Treatment [PDF]

open access: green, 1902
W. H. Broadbent
openalex   +1 more source

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed   +16 more
wiley   +1 more source

CLINICAL STUDIES IN EPILEPSY

open access: bronze, 1925
Donald Fraser
openalex   +1 more source

The role of inflammation in epilepsy

open access: yesNature Reviews Neurology, 2011
A. Vezzani   +3 more
semanticscholar   +1 more source

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring   +4 more
wiley   +1 more source

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