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Pathogenic SCN1A/NaV1.1 mutations cause well defined epilepsies, including Genetic Epilepsy with Febrile Seizures Plus (GEFS+) and the severe epileptic encephalopathy Dravet syndrome. In addition, they cause a severe form of migraine with…
The PTPN11 gene encodes the Src homology 2 domain-containing protein tyrosine phosphatase (SHP2), a key regulator of cell growth, differentiation, and apoptosis through its modulation of various signaling pathways, including the RAS/MAPK…
BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features and provide…
The single nucleotide polymorphism (SNP) rs7903146 in the TCF7L2 gene has been determined as one of the strongest common genetic risk factors for Type 2 Diabetes (T2D). The location of the SNP in a non-coding region suggests a regulatory…
Background: Recent genome-wide association studies (GWAS) have identified a large number of genetic risk factors for schizophrenia (SCZ) featuring ion channels and calcium transporters. For some of these risk factors, independent prior…
Sleep apnea, a prevalent sleep disorder, involves repeated episodes of breathing interruptions during sleep, leading to various health complications, including cognitive impairments, high blood pressure, heart disease, stroke, and even…
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder (NDD) that is caused by genetic, epigenetic, and environmental factors. Recent advances in genomic analysis have uncovered numerous candidate genes with common…
Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. A mutation causing FHM type 3 (FHM3) has been identified in SCN1A encoding the Nav1.1 Na$^+$ channel. This genetic defect affects the inactivation gate. While the…
Neural activity in the brain of parkinsonian patients is characterized by the intermittently synchronized oscillatory dynamics. This imperfect synchronization, observed in the beta frequency band, is believed to be related to the…
Diabetic peripheral neuropathy (DPN) is one of the most common diabetic complications. Mechanisms underlying nerve damage and sensory loss following metabolic dysfunction remain large unclear. Recently, hyperglycemia-induced mitochondrial…
13 Subcortical band heterotopia (SBH), also known as doublecortex syndrome, is a 14 malformation of cortical development resulting from mutations in the doublecortin gene 15 (DCX). It is characterized by a lack of migration of cortical…
Epilepsy and epileptiform discharges are common harmful brain activities, and electroencephalogram (EEG) signals are widely used to monitor the onset status of patients. However, due to the lack of unified EEG signal acquisition standards,…
Sleep apnea (SA) is a type of sleep disorder characterized by snoring and chronic sleeplessness, which can lead to serious conditions such as high blood pressure, heart failure, and cardiomyopathy (enlargement of the muscle tissue of the…
Alzheimer's disease (AD) is a common form of dementia observed in the elderly due to neurodegenerative disorder and dysfunction. This arises from alterations in synaptic functioning of neurons leading to cognitive impairment and memory…
Circadian rhythmicity lies at the center of various important physiological and behavioral processes in mammals, such as sleep, metabolism, homeostasis, mood changes and more. It has been shown that this rhythm arises from self-sustained…
The Critical Node Problem (CNP) is concerned with identifying the critical nodes in a complex network. These nodes play a significant role in maintaining the connectivity of the network, and removing them can negatively impact network…
Identifying sleep problem severity from overnight polysomnography (PSG) recordings plays an important role in diagnosing and treating sleep disorders such as the Obstructive Sleep Apnea (OSA). This analysis traditionally is done by…
Parkinson's disease (PD) is the second most common neurodegenerative disorder worldwide, yet there is no disease-modifying therapy up to this date. The biological complexity underlying PD hampers the investigation of the principal…
Neurodegenerative diseases are characterized by numerous markers of progression and clinical endpoints. For instance, Multiple System Atrophy (MSA), a rare neurodegenerative synucleinopathy, is characterized by various combinations of…
Alzheimer's disease (AD), the predominant form of dementia, is a growing global challenge, emphasizing the urgent need for accurate and early diagnosis. Current clinical diagnoses rely on radiologist expert interpretation, which is prone to…