Results 141 to 150 of about 2,037,182 (380)

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

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

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

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

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

Contribution of intralaminar thalamic nuclei to spike‐and‐wave‐discharges during spontaneous seizures in a genetic rat model of absence epilepsy [PDF]

, 2001
Thomas Seidenbecher, Hans‐Christian Pape   +1 more
openalex   +1 more source

Observations on the relationship between verbal explicit and implicit memory and neuronal density in the left and right hippocampus in temporal lobectomy patients. [PDF]

, 1998
The relationship between neuronal density and verbal memory in left and right hippocampal subfields was investigated in patients who underwent surgery for alleviation of temporal lobe epilepsy.
Beardsworth, Elizabeth, Esiri, Margaret, Zaidel, Dahlia W.   +2 more
core  

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

American 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, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source