Results 121 to 130 of about 2,272,583 (371)

West Syndrome and its Related Epileptic Syndromes [PDF]

open access: yesEpilepsia, 1998
Summary: The purpose of this project was to study the relationship between West syndrome (WS) and its related epileptic syndromes, and reconsider the nosological limits of WS. The electroclinical features of 45 patients who experienced spasms in series were investigated, as well as some features not common in patients with WS.
openaire   +3 more sources

Transplantation of embryonic nervous tissue influence on epileptogenesis at the patients with apallic syndrome and its consequences

open access: yesUkrainian Neurosurgical Journal, 2005
We represent the analysis of 64 patients with apallic syndrome (AS) clinical state. These patients were treated by embryonic nervous tissue transplantation (ENT). The dynamic of clinical course of convulsive syndrome is considered.
V. I. Tsymbalyuk   +2 more
doaj   +1 more source

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu   +10 more
wiley   +1 more source

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2‐Associated Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SATB2‐associated syndrome (SAS) is characterized by intellectual disability, neurodevelopmental disorders, cleft palate, and dental abnormalities. SAS is caused by variants in the special AT‐rich sequence‐binding protein 2 (SATB2), which encodes a transcription factor containing two CUT domains and a homeobox (HOX) domain.
Nao Ukita   +5 more
wiley   +1 more source

Learning from the Syndrome [PDF]

open access: yesarXiv, 2018
In this paper, we introduce the syndrome loss, an alternative loss function for neural error-correcting decoders based on a relaxation of the syndrome. The syndrome loss penalizes the decoder for producing outputs that do not correspond to valid codewords.
arxiv  

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren   +10 more
wiley   +1 more source

Neuroimaging for differential diagnosis of transient neurological attacks

open access: yesBrain and Behavior, Volume 12, Issue 12, December 2022., 2022
Abstract Background Rapid yet comprehensive neuroimaging protocols are required for patients with suspected acute stroke. However, stroke mimics can account for approximately one in five clinically diagnosed acute ischemic strokes and the rate of thrombolyzed mimics can be as high as 17%.
Ying Wang, Hao Zha
wiley   +1 more source

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