Frontiers in Neurology | Neurogenetics section | New and Recent Articles

Ceramide transporter syndrome (CerTra syndrome) is a rare neurodevelopmental disorder caused by pathogenic variants in CERT1 gene encoding ceramide transporter (CERT). These variants disrupt ceramide transport and sphingolipid homeostasis, leading to a clinical phenotype that includes developmental delay, movement abnormalities, and structural brain anomalies. Despite growing recognition of this …

Leigh syndrome (LS) is a prevalent mitochondrial encephalomyopathy in childhood, triggered by mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). The protein encoded by the SURF1 gene localizes to the inner mitochondrial membrane and is involved in the biosynthesis of the cytochrome c oxidase (COX) complex. We enrolled 5 children harboring SURF1 gene variants whose clinical manifestatio…

BackgroundAbnormal cortical neuron development is closely associated with various neurological disorders. Deletion of the Alg13 gene has been identified as strongly associated with epilepsy susceptibility and seizure severity in mice. Similar deletions have also been observed in patients with epilepsy, indicating that Alg13 may play a critical role in cortical interneuron development.MethodsImmun…

Leigh syndrome (LS) is the most common pediatric mitochondrial disorder, typically presenting in infancy with developmental regression, neurological dysfunction, and characteristic brain MRI lesions. It is linked to over 110 genes affecting cellular energy production, making it highly genetically heterogeneous, with complex I deficiency being the most frequent cause. Biallelic mutations in NDUFAF…

IntroductionCerebral Palsy (CP) is characterized by permanent, non-degenerative motor function deficits with increasing evidence of genetic contributions. Although prenatal and perinatal risk factors are well recognized, the underlying etiopathology remains incompletely understood. This study aimed to improve diagnostic accuracy and elucidate the genetic architecture of CP and CP-like phenotypes …

SYNGAP1-related neurodevelopmental disorder (SRD) is a monogenic inherited brain disorder caused by heterozygous loss-of-function mutations in the SYNGAP1 gene. The clinical presentation is complex, with core features including global developmental delay/intellectual disability, epilepsy, autism spectrum disorder, and various behavioral abnormalities. The SynGAP protein, encoded by the SYNGAP1 ge…

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by highly heterogeneous clinical manifestations and multi-system involvement. The most common initial symptoms include tremor, cognitive impairment, and muscle weakness. Characteristic neuroimaging features comprise symmetrical diffusion-weighted imaging (DWI) high signal intensity in the corticomedu…

BackgroundVariants in SCN3A gene encoding the voltage-gated sodium channel Nav1. 3 have been associated with severe developmental and/or epileptic encephalopathies, characterized by early-onset, drug-resistant seizures, malformations of cortical development, and profound neurodevelopmental impairment. Rapid clinical interpretation of SCN3A missense variants remains challenging. This study aimed t…

BackgroundTo document the clinical phenotypes and identify the genetic causes of four unrelated children with intellectual disability and speech impairment.MethodsTrio-based whole exome sequencing (Trios) was performed for four probands and their parents. Identified variants underwent pathogenicity assessment utilizing in silico protein structure prediction and RNA analysis.ResultsTrios revealed …

IntroductionThis study aims to rigorously evaluate the consistency and reliability of a pluripotent stem cell (PSC) differentiation system and explore how the KCNB1 mutation disrupts the temporal regulation of gene expression during neuronal differentiation and modulates neuron function-related pathways.MethodsInduced pluripotent stem cells (iPSCs) derived from a patient carrying a KCNB1 variant …

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder affecting approximately 1 in 10,000–15,000 females, most often caused by loss-of-function mutations in MECP2. Until the recent approval of trofinetide, management relied exclusively on symptomatic treatment and multidisciplinary supportive care. The therapeutic landscape is now undergoing a rapid shift, driven by multiple gene t…

BackgroundLAMA2-related congenital muscular dystrophy (LAMA2-MD) is a genetically heterogeneous disorder defined by progressive muscle weakness, brain structural abnormalities, epilepsy, and multisystem involvement. The primary goal of this study was to characterize the clinical features, temporal progression, and genotype-phenotype correlations of LAMA2-MD.MethodsMedical records of patients with…

IDEDNIK syndrome (formerly MEDNIK syndrome, OMIM #609313) is a rare autosomal recessive neurocutaneous disorder characterized by dysregulated copper metabolism and multisystem involvement. The primary causative gene, AP1S1, encodes the σ1A subunit of the adaptor protein complex AP-1, while mutations in AP1B1, encoding the β1 subunit, can cause a similar phenotype. Pathogenic mutations impair intr…

Pathogenic variants in the ATP7A gene, which encodes a transmembrane copper-transporting P-type ATPase, underlie Menkes disease, a rare X-linked recessive disorder of copper metabolism. We report a 3-year-old boy presenting with progressive neurodegeneration, refractory epilepsy, connective tissue abnormalities, and characteristic kinky hair. Whole-exome sequencing and confirmatory analysis ident…

BackgroundThe CHD2 gene is one of the most common causative genes of developmental and epileptic encephalopathy (DEE). With the advent of high-throughput sequencing, identifying CHD2 variants has increased, necessitating evaluation of the gene-specific performance of widely used tools, as genome-wide benchmarks may mask such heterogeneity.MethodsThe dataset of pathogenic and control CHD2 missense…

In the published article, the affiliation “Guangxi University of Chinese Medicine, Nanning, China” was omitted from the paper. This affiliation has now been added to author Weichao Sun. Author Qiuyu Wei was erroneously assigned as corresponding author. The correct corresponding authors are Gang Wu and Jin Wang. The Abstract in the published article was corrected. The original version appears belo…

BackgroundAlthough traditional vascular risk factors, such as hypertension and diabetes, are incorporated into stroke risk prediction models, a significant proportion of stroke events remain unexplained by these models. Increasing evidence suggests that accelerated biological aging, as measured by DNA methylation clocks, may reflect reduced organ function and heightened susceptibility to disease.…