Eyelid myoclonia with absences (EMA), also known as Jeavons syndrome (JS) is a childhood onset epileptic syndrome with manifestations involving a clinical triad of absence seizures with eyelid myoclonia (EM), photosensitivity (PS), and seizures or electroencephalogram (EEG) paroxysms induced by eye closure. Although a genetic contribution to this syndrome is likely and some genetic alterations have been defined in several cases, the genes responsible for have not been identified. In this review, patients diagnosed with EMA (or EMA-like phenotype) with a genetic diagnosis are summarized. Based on this, four genes could be associated to this syndrome (SYNGAP1, KIA02022/NEXMIF, RORB, and CHD2). Moreover, although there is not enough evidence yet to consider them as candidate for EMA, three more genes present also different alterations in some patients with clinical diagnosis of the disease (SLC2A1, NAA10, and KCNB1). Therefore, a possible relationship of these genes with the disease is discussed in this review.

N-type voltage-gated calcium channel controls the release of neurotransmitters from neurons. The association of other voltage-gated calcium channels with epilepsy is well-known. The association of N-type voltage-gated calcium channels and pain has also been established. However, the relationship between this type of calcium channel and epilepsy has not been specifically reviewed. Therefore, the present review systematically summarizes existing publications regarding the genetic associations between N-type voltage-dependent calcium channel and epilepsy.

The implementation of non-invasive prenatal testing (NIPT) in maternal plasma, based on cell-free DNA (cfDNA) analysis, has progressed over the last two decades and is now integrated into the Spanish National Health System. However, there remains significant heterogeneity in its indications, technical methodologies, and reporting standards, reflecting international variability. This guide, developed by experts from the Spanish Association of Prenatal Diagnosis (AEDP) and the Spanish Association of Human Genetics (AEGH), provides recommendations to standardize NIPT application. It addresses key aspects such as technical and analytical requirements, integration with invasive diagnostic methods, pre- and post-test genetic counseling, and legal considerations. Additionally, the guide discusses the detection of common aneuploidies, the limitations in identifying structural chromosomal abnormalities and rare variants, and the impact of biological and clinical factors on test performance. By establishing a minimum framework based on scientific evidence, this document aims to optimize NIPT implementation in a cost-effective manner, ensuring clinical validity and informed decision-making for both healthcare professionals and pregnant women.

Epilepsy is a neurological disorder that affects more than 50 million people. Its etiology is unknown in approximately 60% of cases, although the existence of a genetic factor is estimated in about 75% of these individuals. Hundreds of genes involved in epilepsy are known, and their number is increasing progressively, especially with next-generation sequencing techniques. However, there are still many cases in which the results of these molecular studies do not fully explain the phenotype of the patients. Somatic mutations specific to brain tissue could contribute to the phenotypic spectrum of epilepsy. Undetectable in the genomic DNA of blood cells, these alterations can be identified in cell-free DNA (cfDNA). We aim to review the current literature regarding the detection of somatic variants in cfDNA to diagnose refractory epilepsy, highlighting novel research directions and suggesting further studies.

Introduction: Expanded non-invasive prenatal testing (NIPT) utilizing cell-free DNA (cfDNA) in maternal blood enables the detection of common trisomies as well as rare autosomal trisomies and large deletions and duplications within the genome of the placenta and, therefore, the fetus. Given that cfDNA predominantly originates from trophoblastic cells, expanded NIPT also holds the potential to reveal confined placental mosaicism (CPM). CPM has been associated with placental dysfunction, which can result in reduced levels of the circulating placental biomarkers routinely tested as part of first-trimester aneuploidy screening and in early-onset fetal growth restriction (eoFGR). This study aims to explore whether expanded NIPT adds clinical value compared with targeted NIPT in pregnancies exhibiting placental dysfunction, which is proxied herein by first-trimester pregnancy-associated plasma protein A (PAPP-A) or the beta-subunit of human chorionic gonadotropin (β-hCG) values <0.3 multiples of the median (MoM) or the diagnosis of eoFGR. Materials and methods: This is a prospective, multicenter, observational cohort study conducted at six Spanish sites from 2021 to 2026. Inclusion criteria are singleton pregnancies with PAPP-A or β-hCG values <0.3 MoM in the first-trimester or eoFGR defined as FGR diagnosed before 32 + 0 weeks of gestation in the absence of congenital anomalies according to Delphi criteria. Expanded NIPT is performed in all enrolled patients, and pregnancy and perinatal outcomes are evaluated. Protocol version: 6.0, 27 ^th January 2026