Results 71 to 80 of about 671,361 (363)
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
Русский журнал детской неврологии, 2021 The disease caused by mutations in the CDKL5 gene (encoding cyclin-dependent kinase 5, CDK5) belongs to the group of early (infantile) epileptic encephalopathies caused by alterations in the genome.
K. Yu. Mukhin +3 more
doaj +1 more source
Repetitive transcranial magnetic stimulation and epilepsy: A brief essay [PDF]
arXiv, 2022 During the last three decades, many studies have been conducted in the field of treatment with non-invasive methods. In this way, researchers try to use alternative methods including the use of electromagnetic waves in the treatment of diseases. As a result, the therapeutic use of electromagnetic waves in the treatment of neurological diseases has made
arxiv
The Psychoses of Epilepsy [PDF]
Journal of the Royal Society of Medicine, 1991 People who have epilepsy seem particularly liable to certain major psychiatric disorders: a chronic interictal psychosis that closely resembles schizophrenia; and episodic psychotic states, some of which may arise in close temporal relation with seizure activity.
openaire +7 more sources
Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due to striatal dysfunction. In‐depth study of linguistic skills and the role of extrastriatal structures in HD is scarce.
Arnau Puig‐Davi +13 more
wiley +1 more source
Olfactory function in focal epilepsies: Understanding mesial temporal lobe epilepsy beyond the hippocampus [PDF]
, 2019 Several lines of research have linked olfactory regions with the pathophysiology of focal epilepsies. Among those regions, the piriform cortex represents the major part of the primary olfactory cortex.
Aledo Serrano, Angel +6 more
core +2 more sources
Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar +7 more
wiley +1 more source