Disorders of neurogenesis and cortical development.
Disorders of neurogenesis and cortical development. Dialogues Clin Neurosci. 2018 Dec;20(4):255-266 Authors: Guarnieri FC, de Chevigny A, Falace A, Cardoso C Abstract The development of the cerebral cortex requires complex sequential processes that have to be precisely orchestrated. The localization and timing of neuronal progenitor proliferation and of neuronal migration define the identity, laminar positioning, and specific connectivity of each single cortical neuron. Alterations at any step of this organized series of events-due to genetic mutations or environmental factors-lead to defined brain pathologies collectively known as malformations of cortical development (MCDs), which are now recognized as a leading cause of drug-resistant epilepsy and intellectual disability. In this heterogeneous group of disorders, macroscopic alterations of brain structure (eg, heterotopic nodules, small or absent gyri, double cortex) can be recognized and probably subtend a general reorganization of neuronal circuits. In this review, we provide an overview of the molecular mechanisms that are implicated in the generation of genetic MCDs associated with aberrations at various steps of neurogenesis and cortical development. PMID: 30936766 [PubMed - in process]
Conclusions: Psychiatric comorbidity is very common in epileptic patients and depending on the type of diagnosed epilepsy, various symptoms are expressed. Furthermore, psychological stress is more observable in adolescents with epilepsy. For patients with epilepsy, mental health care and seizure control is extremely important in the prevention of serious mental disabilities. PMID: 31961263 [PubMed - as supplied by publisher]
Epilepsy in childhood has far reaching effects on development: it is a major contributor of childhood impairment and disability and can negatively impact on a child ’s physical, social and psychological abilities, all of which limit life opportunities, life span and overall well-being (1,2). As children grow older, these effects become more manifest as cognitive ability and life experience increases, and thus children with epilepsy (CWE) are more able to expr ess how they are affected by the disorder.
In conclusion, variants in NGLY1 affect mitochondrial energy metabolism which in turn might contribute to the clinical disease course. This article is protected by copyright. All rights reserved. PMID: 31957011 [PubMed - as supplied by publisher]
CONCLUSIONS: Adjunctive treatment with perampanel was efficacious and tolerated in pediatric patients aged 4 years or older with epilepsy. Early perampanel treatment may help to reduce the burden of their seizures and improve their quality of life. PMID: 31942758 [PubMed]
Sometimes the best goals are soft and squishy like an eggnog filled belly.It’s either very late or very early, depending on your point of view. Either way, I’m sitting here thinking deep, New Year’s-like thoughts. In the other room sleeps a friend who almost wasn’t my friend anymore until we patched things last week. Upstairs sleeps my third daughter whose heart is in need of mending as her marriage comes to an end. Hanging out with dad and his friend on New Year’s Eve was either a low point for her or just exactly what she needed.My thoughts are a warm blend of nostalgia and regret with a sub...
Epilepsy that develops following traumatic brain injury (TBI) significantly increases the risk for disability and boosts healthcare costs, new research suggests.Medscape Medical News
Maxwell Freed, two, from Denver, Colorado is suffering from a rare genetic disorder that causes serious speech, motor and intellectual disabilities and eventually a severe form of epilepsy.
ConclusionWhile collection of the opinions of physicians is valuable, this is just one piece of the puzzle; future studies should investigate the opinions of other stakeholders. More importantly, investigators should explore whether patients with PNES have any job-related difficulties.
In conclusion, school-aged children with CP very often screened positive for ASD and/or ADHD. The prevalence of ASD and ADHD is most likely underestimated in children with CP. These screening findings require further investigations.
CONCLUSION: While collection of the opinions of physicians is valuable, this is just one piece of the puzzle; future studies should investigate the opinions of other stakeholders. More importantly, investigators should explore whether patients with PNES have any job-related difficulties. PMID: 31937514 [PubMed - as supplied by publisher]