CLINICAL, PARACLINICAL CHARACTERISTICS AND CLASSIFICATION OF EPILEPSY SYNDROMES IN INFANTS AT CHILDREN’S HOSPITAL

Epilepsy in young children: a retrospective study of patient profiles

Background. Epilepsy onset occurs in childhood in 70% of patients and is considered a major problem in pediatric neurology. Objective: To study the profile of inpatients aged 1 month to 3 years with newly diagnosed epilepsy. Material and methods. A retrospective analysis of 261 medical records of children with a newly diagnosed epilepsy admitted to the Early Childhood Psychoneurology Department No. 1 of the Children's Center for Psychoneurology and Epileptology at the Republican Children's Clinical Hospital (Ufa) between 2018 and 2024 was conducted. Patients ranged in age from 1 month to 3 years. The average age of patients was 8,7±0,7 months, with a predominance of boys (56,3%). All patients underwent clinical, instrumental, laboratory, neuroimaging, and electrophysiological (electroencephalography (EEG), video-EEG monitoring) examinations. Results. The rate of all cases of epilepsy peaked in children under 1 year of age – 206 (79%). West syndrome and Ohtahara syndrome were noted in 62 (23,7%) children aged 7 to 12 months. Depending on the etiology, structural epilepsy was observed in 197 (75,5%) patients. The most common cause of epilepsy with an established etiologic factor was hypoxic-ischemic, hemorrhagic lesion of the central nervous system – 159 (61%). In young children, a frequent combination of epileptic seizures with delayed psychomotor and psychospeech development was recorded (83,9%). In 23,7% of patients, hypsarrhythmia, “burst-suppression” – a pattern specific to epileptic encephalopathies (West and Ohtahara syndromes) were EEG recorded. Valproic acid was the drug of choice when prescribing anticonvulsant therapy. Serum antiepileptic drug levels remained adequate throughout treatment. Conclusion. The results of our study highlight the importance of a comprehensive approach to epilepsy treatment. Early diagnosis, comprehensive treatment with appropriate antiepileptic drug selection based on seizure type and epilepsy etiology, and rehabilitation improve prognosis and quality of life for children with epilepsy. Further research is needed to gain insights into genetic and environmental risk factors and to develop new methods for prevention and treatment of epilepsy in young children.

Electroclinical phenotypes-genetic characterization of developmental and epileptic encephalopathies in a cohort study.

OBJECTIVE Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype-phenotype characterizations and prognosis with genetically determined DEEs. METHODS We retrospectively evaluated patients with DEEs who were referred to the Division of Pediatric Neurology at our university hospital between 2017 and 2021 and followed for at least 24 months. Demographic characteristics, etiologies, genetic findings, and electroclinical phenotypes were analyzed in 136 children with DEEs. RESULTS In our study, 50.7% of the patients were female. Age at presentation ranged from 1 to 126 months and the mean age at seizure onset was 9.4 months. Etiology was genetic in 41 patients (30.1%), structural in 32 patients (23.5%), and metabolic in 17 patients (12.5%). Among patients with a genetic etiology, 32 were genetically solved, including 28 with pathogenic or likely pathogenic single-gene variants and 4 with pathogenic copy number variants or chromosomal rearrangements. Eight additional patients had phenotype-concordant variants of uncertain significance, and one patient had a clinical-only genetic diagnosis. SCN1A was the most frequently affected gene. Electroclinical phenotypes in genetic DEEs were as follows: EIDEE in 11 patients, Dravet syndrome in 10, IESS in 6, EMAS in 2, LGS in 2, and unclassified in 10 patients. SIGNIFICANCE We characterized DEEs with genetic etiology in our cohort and described their associated electroclinical phenotypes, including several novel variants in disease-associated genes. Understanding the diverse underlying etiologies of DEEs in children, along with their genotypic and phenotypic characteristics, is crucial for early diagnosis and treatment and the development of targeted management strategies.

Classification of epilepsy in children 6 months to 12 years of age according to International League Against Epilepsy Classification

Generalized seizures with tonic clonic presentation were most common seizure type reported and were classified according to International League Against Epilepsy classification 1989.

Early infantile developmental and epileptic encephalopathy: clinical spectrum, diagnosis, outcomes, and evolving treatment strategies.

Critical unmet needs include earlier molecular diagnosis, precision therapies targeting developmental outcomes beyond seizure control, and prospective international registries to characterize the long-term natural history of EIDEE.

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy.

BACKGROUND AND OBJECTIVES KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. MATERIALS AND METHODS We conducted a literature review of previously published cases of patients with KBG syndrome and epilepsy in PubMed, Scopus, and Web of Science databases in English, focusing on seizure semiology and electroencephalographic features. RESULTS Fifty-four studies were included in the review, including 233 patients with KBG syndrome and epilepsy. Most children with KBG syndrome and epilepsy (89.7%) had developmental delay and intellectual disability. The most common neurological symptoms were hypotonia (30.7%), sleep disturbances (20%), ataxia (18.7%), migraine (8.3%), and stereotypies (6.7%) (N = 75, available data on neurological symptoms). The median age of developing seizures was 4 years (range 1 month-51 years). Patients with KBG syndrome had most commonly generalized seizures (73.9%), although focal seizures occurred in 37.9% of cases (N = 140, available data on seizure type). Generalized tonic-clonic seizures were the most common seizure type (38.2%), followed by absences (26.6%), and focal seizures with or without preserved consciousness (21.9% and 19.1%, respectively). Interictal EEG showed focal and, less frequently, generalized discharges (24.6% vs. 15%) in the 118 patients with available EEG data. Almost 70% of patients were seizure-free after a mean follow-up of 9.9 years, while drug-resistant epilepsy was reported in 22.6% of cases. Patients with focal impaired consciousness seizures had significantly lower odds of achieving seizure freedom. CONCLUSION Epileptic seizures in patients with KBG syndrome are usually generalized and have an onset between infancy and mid-teens. Common epileptological features in KBG syndrome comprise the good response to antiseizure medication and, in most cases, the remitting nature of epilepsy. Drug-resistant epilepsy can be observed in up to one-third of cases.

[Clinical characteristics of six cases of neurofibromatosis type 1-associated infantile epileptic spasms syndrome].