Results 161 to 170 of about 647,303 (326)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

The link between steady-state EEG and rs-fMRI metrics in healthy young adults: The effect of macrovascular correction. [PDF]

Imaging Neurosci (Camb)
Zhong XZ, Van Lankveld H, Mathews A, Chen JJ.   +3 more
europepmc   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

EEG: Electroencephalography

Journal of Criminal Law and Criminology (1931-1951), 1947
openaire   +3 more sources

Quantum inspired wavelet and Fourier feature fusion for EEG based epilepsy and seizure detection. [PDF]

Sci Rep
Jayanthi V, Sivakumar S.
europepmc   +1 more source

Differential roles of EA‐TRAPed cells in the anterior cingulate cortex across various intervention times in inflammatory pain

Animal Models and Experimental Medicine, EarlyView.
The cumulative effect of EA analgesia is partially attributed to the activation of EA‐TRAPed cells in ACC. Multiple EA sessions and single EA sessions activated different neuronal populations in the ACC. The enhanced analgesic effect of multiple EA sessions may be attributed to an increase in the proportion of GABAergic neurons within the ACC. Abstract
Zi Guo, Ru Ye, Lu Guan, Wei He, Shuang Qiu, Xiaomei Shao, Junfan Fang, Jianqiao Fang, Junying Du   +8 more
wiley   +1 more source

The Ontogenetic Development of Rapid Eye Movement Sleep in Early Life and Its Regulatory Mechanisms. [PDF]

Int J Dev Neurosci
Zhang XJ, Gao XH, Wang AH, Wang CQ, Liu J, Hu YL, Duan BW, Huang HY, Gao JX.   +8 more
europepmc   +1 more source

Periodic Discharges in Herpes Encephalitis Presenting with Non-convulsive Status Epilepticus: A Detailed Demonstration of the Temporal Correlation Between EEG and Neurologic Status

, 2020
Halil Önder, Fatih Temoçin
openalex   +1 more source

A Motor Imagery EEG Feature Extraction Method Based on Energy Principal Component Analysis and Deep Belief Networks [PDF]

, 2020
Liwei Cheng, Duanling Li, Gongjing Yu, Zhonghai Zhang, xiang li, Shuyue Yu   +5 more
openalex   +1 more source