Results 131 to 140 of about 2,035,560 (322)

Pushing Biomolecule Detection Limit With Graphene Field‐effect Transistor Biosensors

Advanced Electronic Materials, EarlyView.
Graphene knows your health! This work presents a comprehensive overview of recent advances in graphene field‐effect transistor (GFET) biosensors for ultrasensitive biomolecule detection. How device engineering, high‐mobility graphene synthesis, and tailored surface chemistry push detection limits is highlighted, while discussing emerging strategies ...
Co Dang Pham, Quang Thang Trinh, Jun Zhang, Nam‐Trung Nguyen, Tuan‐Khoa Nguyen   +4 more
wiley   +1 more source

Augmentation of Tonic GABAA Inhibition in Absence Epilepsy: Therapeutic Value of Inverse Agonists at Extrasynaptic GABAA Receptors

Advances in Pharmacological Sciences, 2011
It is well established that impaired GABAergic inhibition within neuronal networks can lead to hypersynchronous firing patterns that are the typical cellular hallmark of convulsive epileptic seizures.
Adam C. Errington, David W. Cope, Vincenzo Crunelli   +2 more
doaj   +1 more source

Absence Epilepsy with Fast Rhythmic Atypical EEG

Pediatric Neurology Briefs, 2001
The medical files of 31 patients with absence epilepsy (AE) were reviewed at La Timone University Hospital, and Henri Gastaut/Saint Paul Hospital, Marseilles, France.
J Gordon Millichap
doaj   +1 more source

Intelligent Supportive System for People with Profound Intellectual and Multiple Disabilities

Advanced Intelligent Systems, EarlyView.
A holistic INSENSION system is developed—a novel intelligent decision support system leveraging state‐of‐the‐art noninvasive audio‐visual sensor technologies together with machine learning algorithms and expert knowledge, to detect and interpret behaviors and communications (nonverbal signals—NVSs) of people with PIMD in challenging real‐world ...
Gašper Slapničar, Michał Kosiedowski, Arkadiusz Radziuk, Erik Dovgan, Torsten Hammann, Meike Engelhardt, Christin Kupitz, Carmen Campomanes‐Alvarez, Dorota Janczewska, Peter Zentel, Mitja Luštrek   +10 more
wiley   +1 more source

Solving the Socratic Problem—A Contribution from Medicine [PDF]

, 2018
This essay provides a medical theory that could clarify enigmas surrounding the historical Socrates. It offers textual evidence that Socrates had temporal lobe epilepsy and that its two types of seizure manifested as recurrent voices and peculiar ...
Muramoto, Osamu
core  

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel   +5 more
wiley   +1 more source

Pediatric Absence Status Epilepticus: Prolonged Altered Mental Status in an 8-Year-Old Boy

Case Reports in Neurological Medicine, 2016
Absence status epilepticus is characterized by a prolonged state of impaired consciousness or altered sensorium with generalized electroencephalographic abnormalities.
Scott J. Adams, Melody Wong, Tahereh Haji, Shahmir Sohail, Salah Almubarak   +4 more
doaj   +1 more source

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A., Ali, Nouman Safdar, Ilyas, Ghulam, Inayat, Faisal, Khan, Zarak H., Lodhi, Hanan T., Ullah, Waqas   +6 more
core   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source