Chromosomal abnormalities are associated with a broad spectrum of clinical manifestations, one of the more commonly observed of which is epilepsy. The frequency, severity, and type of epileptic seizures vary according to the macro‐ and microrearrangements present. Even within a single chromosomal anomaly, we most often deal with a phenotypic spectrum. The aim of the study was to look for chromosomal rearrangements with a characteristic electroencephalographic pattern. Only a few disorders have peculiar electroclinical abnormalities: 1p36, 4p16, 6q terminal or trisomy 12p, Angelman syndrome, inv dup 15, 15q13.3 deletions, ring 20, Down syndrome, or Xp11.22–11.23 duplication. We also reviewed studies on epileptic seizures and typical electroencephalographic patterns described in certain chromosomal rearrangements, focusing on the quest for potential electroclinical biomarkers. The comprehensive review concludes with clinical presentations of the most common micro and macro chromosomal rearrangements, such as 17q21.31 microdeletion, 6q terminal deletion, 15q inv dup syndrome, 2q24.4 deletion, Xp11.22–11.23 duplication, 15q13.3 microdeletion, 1p36 terminal deletion, 5q14.3 microdeletion, and Xq28 duplication. The papers reviewed did not identify any specific interictal electroencephalographic patterns that were unique and significant biomarkers for a given chromosomal microrearrangement. The types of seizures described varied, with both generalized and focal seizures of various morphologies being reported. Patients with chromosomal anomalies may also meet the criteria for specific epileptic syndromes such as Infantile Epilepsy Spasms Syndrome (IESS, West syndrome): 16p13.11, 15q13.3 and 17q21.31 microdeletions, 5q inv dup. syndrome; Dravet syndrome (2q24.4 deletion), Lennox–Gastaut syndrome (15q11 duplication. 1q13.3, 5q inv dup.); or Self‐Limited Epilepsy with Autonomic Features (SeLEAS, Panayiotopoulos syndrome: terminal deletion of 6q.n), Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECT): fragile X syndrome. It is essential to better characterize groups of patients to more accurately define patterns of epilepsy and EEG abnormalities. This could lead to new treatment strategies. Future research is required to better understand epileptic syndromes and chromosomal rearrangements.Plain Language Summary: This paper presents EEG recording abnormalities in patients with various gene abnormalities that can cause epilepsy. The authors summarize these EEG variations based on a literature review to see if they occur frequently enough in other chromosomal abnormalities (in addition to those already known) to be a clue for further diagnosis.

W ostatnich latach znacząco zwiększyła się częstość rozpoznawania zapaleń mózgu o etiologii autoimmunologicznej, zarówno w populacji pacjentów dorosłych, jak i dzieci i młodzieży. Fakt ten jest niewątpliwie związany z dynamicznym rozwojem nowych metod diagnostycznych, jak również postępem wiedzy medycznej. Szczególnym rodzajem spośród powyższych jest zapalenie mózgu z obecnością przeciwciał przeciwko receptorowi NMDA. Ze względu na występujące w tej chorobie objawy charakterystyczne dla zaburzeń psychicznych to właśnie psychiatrzy są często specjalistami, którzy jako pierwsi mają do czynienia z pacjentem z powyższym rozpoznaniem. Diagnostyka różnicowa jest niezmiernie trudna, a diagnoza oparta przede wszystkim na danych z wywiadu oraz stwierdzeniu typowych objawów klinicznych. Dlatego w artykule na podstawie narracyjnego przeglądu literatury baz danych PubMed, EMBASE, oraz biblioteki Cochrane z lat 2007-2021 z użyciem słów kluczowych: „anti-NMDAR encephalitis”, „children”, „adolescents” opisano charakterystyczny przebieg choroby, omówiono badania diagnostyczne służące potwierdzeniu rozpoznania oraz przedstawiono aktualne wytyczne dotyczące leczenia. Ze względu na częstość występowania zapalenie mózgu z przeciwciałami przeciwko receptorowi baz danych PubMed, EMBASE, oraz biblioteki Cochrane NMDA jest chorobą, którą należy brać pod uwagę w diagnostyce różnicowej w codziennej praktyce psychiatrycznej.

The aim of this study was to characterize the genotype and phenotype heterogeneity of patients with SCN1A gene mutations in the Polish population, fulfilling the criteria for the diagnosis of Dravet syndrome (DRVT). Particularly important was the analysis of the clinical course, the type of epileptic seizures and the co-occurrence of additional features such as intellectual disability, autism or neurological symptoms such as ataxia or gait disturbances. Based on their results and the available literature, the authors discuss potential predictors for DRVT. Identifying these early symptoms has important clinical significance, affecting the course and disease prognosis. 50 patients of the Pediatric Neurology Clinic of the Institute of Mother and Child in Warsaw clinically diagnosed with DRVT and carriers of SCN1A pathogenic variants were included. Clinical data were retrospectively collected from caregivers and available medical records. Patients in the study group did not differ significantly in parameters such as type of first seizure and typical epileptic seizures from those described in other studies. The age of onset of the first epileptic seizure was 2–9 months. The co-occurrence of intellectual disability was confirmed in 71% of patients and autism in 18%. The study did not show a correlation between genotype and phenotype, considering the severity of the disease course, clinical symptoms, response to treatment, the presence of intellectual disability, autism symptoms or ataxia. From the clinical course, a significant problem was the differentiation between complex febrile convulsions and symptoms of DRVT. The authors suggest that parameters such as the age of the first seizure, less than one year of age, the onset of a seizure up to 72 h after vaccination and the presence of more than two features of complex febrile seizures are more typical of DRVT, which should translate into adequate diagnostic and clinical management. The substantial decrease in the age of genetic verification of the diagnosis, as well as the decline in the use of sodium channel inhibitors, underscores the growing attention of pediatric neurologists in Poland to the diagnosis of DRVT.

Background: The accessibility of effective SMA (spinal muscular atrophy) treatment is resulting in a growing number of affected women reaching fertility age and deciding to conceive. Pregnancy in women with SMA is associated with a high risk of rapid progression of symptoms, including increased weakness, growing paresis, or even onset of respiratory failure requiring ventilation support. Muscle weakness frequently leads to disability, which in a high percentage is irreversible. Pre-term labor and delivery by cesarean section are the most commonly described cases in the literature. Methods: This paper aims to describe the first case in Europe, a 21-year-old patient treated with Nusinersen under the drug program during the third trimester of pregnancy. Despite the significant progression of the disease during pregnancy, the patient did not lose gait function. The pregnancy was ended at 33Hbd, and the baby’s condition was unremarkable. In addition to clinical data, this paper also discusses the economic aspects. Conclusions: Thanks to the rapid initiation of treatment, the patient did not lose her ability to walk, and a significant improvement in motor function was observed after the postpartum period. No side effects or negative effects on the fetus were observed.

Studies conducted on large populations show a lack of connection between vaccination and serious neurological symptoms. However, there are isolated cases that indicate such a relationship. These reports on adverse effects following immunization (AEFI) reduce social confidence in vaccination; however, their background may be rare genetic defects. The aim of the presented study was to examine if neurological AEFI in children may be associated with variants in genes related to neurodevelopment. To identify such possible associations, a descriptive study of the Polish case series was conducted. We performed next-generation sequencing in patients who, up to 4 weeks of injection of any vaccine, manifested neurological AEFI. We included 23 previously normally developing children with first seizures that occurred after vaccination. We identified pathogenic/likely pathogenic variants in genes engaged in neurodevelopment in nine patients and variants of uncertain significance in another nine patients. The mutated genes belonged to the group of genes related to epilepsy syndromes/epileptic encephalopathy. We showed that AEFI might have a genetic background. We hypothesized that in some AEFI patients, the vaccine might only trigger neurological symptoms that would have been manifested anyway as a result of a pathogenic variant in a gene engaged in neurodevelopment.

Background/Objectives: Epilepsy represents one of the most common chronic neurological disorders in children, with a considerable proportion of patients exhibiting resistance to pharmacotherapy despite the advent of novel antiseizure medications (ASMs) in recent decades. This retrospective study assesses the off-label administration of cenobamate—a newly approved antiseizure medication (ASM) for focal seizures in adults—in a cohort of paediatric patients with drug-resistant epilepsy at a single neurology centre. Methods: Clinical outcomes were reviewed retrospectively for 18 children who received cenobamate for at least 6 months. Results: Eighteen paediatric patients with drug-resistant epilepsy received cenobamate therapy at a neurology centre. The mean age was 164.6 months, and each patient had previously trialled an average of 8.7 antiseizure medications. During a follow-up period of up to 29 months, 39% of participants achieved complete seizure freedom, while five additional patients experienced a seizure reduction exceeding 80%. Concomitant clobazam use was common among the cohort. Adverse events were reported in 78% of patients, predominantly somnolence, though these were generally transient or manageable. One patient developed a temporary exacerbation of seizures, which resolved following a dosage adjustment. Many patients were able to reduce or discontinue other ASMs during the observation period. Conclusions: Cenobamate demonstrated acceptable tolerability in this paediatric cohort, and seizure improvements were observed in a subset of patients. Further clinical trials are warranted to comprehensively evaluate the efficacy and safety profile of cenobamate in this patient population.