Results 151 to 160 of about 414,897 (392)
Brain damage following whooping cough vaccination : is it time to lay the myth to rest? [PDF]
, 1998 Whooping cough causes significant morbidity and mortality, especially in early infancy. Although an effective vaccine exists, vaccine uptake in Malta was previously disappointing due to the general public’s and the medical community’s doubts regarding ...
Busuttil, Ray, Grech, Victor E.
core
A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]
, 2013 Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Alessandra Maresca +11 more
core +4 more sources
Hepatic Encephalopathy in Cirrhosis: Pathology and Pathophysiology
Drugs, 2019 Neuropathology of hepatic encephalopathy (HE) in cirrhosis is primarily astroglial in nature characterized by Alzheimer type 2 astrocytosis together with activation of microglia indicative of neuroinflammation. Focal loss of neurons may also occur in the
R. Butterworth
semanticscholar +1 more source
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 +16 more
wiley +1 more source
RAPIDLY PROGRESSIVE CEREBRAL DEGENERATION (SUBACUTE VASCULAR ENCEPHALOPATHY) WITH MENTAL DISORDER, FOCAL DISTURBANCES, AND MYOCLONIC EPILEPSY [PDF]
, 1954 D. P. Jones, S. Nevin
openalex +1 more source
Branched-chain amino acids for people with hepatic encephalopathy.
Cochrane Database of Systematic Reviews, 2017 BACKGROUND Hepatic encephalopathy is a brain dysfunction with neurological and psychiatric changes associated with liver insufficiency or portal-systemic shunting. The severity ranges from minor symptoms to coma. A Cochrane systematic review including 11
L. Gluud +6 more
semanticscholar +1 more source
Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo +5 more
wiley +1 more source
Frontiers in MedicineHepatolenticular Degeneration (HLD) is a rare condition caused by a genetic copper metabolism disorder and a basal ganglia-dominated degenerative brain disease. Its characteristic clinical features include progressive extrapyramidal symptoms, psychiatric
Zhuang Tao +5 more
doaj +1 more source
Brain Pathology, 2019 Chronic traumatic encephalopathy is a debilitating neurodegenerative disorder associated with repetitive traumatic brain injuries often sustained through prior contact sport participation. The frequency of this disorder in a diverse population, including
Kevin F Bieniek +9 more
semanticscholar +1 more source