Alzheimer's disease (AD) is known to be associated with an increased risk of epilepsy, which is not exclusively related to the late stage of the disease - when a major cognitive impairment is observed, previously known as the dementia stage - but also to its prodromal stage (mild cognitive impairment). Moreover, published case reports and cohorts have shown that epilepsy may occur even earlier, at the preclinical stage of AD: Epileptic seizures may therefore be the sole objective manifestation of the disease. Such a situation is called the epileptic variant of AD (evAD). EvAD is one of the etiologies of late-onset epilepsy, which means that it carries a risk of later progression to dementia and that it can only be diagnosed by assessing amyloid and tau biomarkers. However, evAD is a window of therapeutic opportunity that is probably optimal for preventing, through antiseizure medication treatment, the accelerated cognitive decline associated with AD-related brain hyperexcitability (manifested by seizures or interictal epileptiform activities).
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http://dx.doi.org/10.1016/j.seizure.2024.09.015 | DOI Listing |
Ann Med
December 2025
Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos (Hum&QRinHS), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, Alcorcón, Spain.
Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.
Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included.
J Mol Neurosci
December 2024
Department of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China.
Focal cortical dysplasia (FCD) II is a cortical malformation characterized by cortical architectural abnormalities, dysmorphic neurons, with or without balloon cells. Here, we systematically explored the pathophysiological role of the GATOR1 subunit NPRL3 variants including a novel mutation from iPSCs derived from one FCD II patient. Three FCD II children aged 0.
View Article and Find Full Text PDFEpilepsia Open
December 2024
University of Florence, Florence, Italy.
People with epilepsy (PWE) are at higher risk of psychiatric disorders (PD), disability, and reduced quality of life than the general population, especially in childhood and adolescence and when seizures originate from the temporal lobe. Temporal Lobe Epilepsy (TLE) is the most common type of focal epilepsy and can be due to structural abnormalities, or non-lesional causes, such as genetic variants. The prevalence of PD is approximately 20%-30% in people with epilepsy in general, and from 40% up to 80% in people with TLE.
View Article and Find Full Text PDFFront Med (Lausanne)
December 2024
Department of Medicine, Service of Nephrology, Fribourg State Hospital, Fribourg, Switzerland.
Aim Of The Study: Tuberous sclerosis complex (TSC) is a genetic and multisystemic disorder that affects between 1/6'000 and 1/10'000 of newborns. Clinical criteria and/or genetic analysis establish the diagnosis. The mechanistic target of rapamycin (mTOR) inhibitors everolimus or sirolimus reduce the severity of several TSC-related clinical traits.
View Article and Find Full Text PDFNeurogenetics
December 2024
Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism.
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