ArticleItalian journal of pediatrics2020
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
Article in Italian journal of pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy.Frontiers in genetics · 2025Article
- Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.Epilepsia open · 2024Article
- Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder.Journal of pediatric genetics · 2024Article
- Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.Epilepsia open · 2024Article
- Expanding the Spectrum of Autosomal DominantGenes · 2024Review
- ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.Cerebellum (London, England) · 2024Article
- A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.Arquivos de neuro-psiquiatria · 2024Article
- DDX3X Syndrome Behavioral Manifestations with Particular Emphasis on Psycho-Pathological Symptoms-A Review.Biomedicines · 2023Review
- Article
- Identification of aJournal of clinical medicine · 2022Article
- A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Study.Journal of clinical medicine · 2022Article
- Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway.Frontiers in pediatrics · 2022Article
- Case Report: Identification of Two Variants ofFrontiers in genetics · 2022Article
- Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses.Frontiers in neurology · 2022Review
- Multi-Omics Investigations Revealed Underlying Molecular Mechanisms Associated With Tumor Stiffness and Identified Sunitinib as a Potential Therapy for Reducing Stiffness in Pituitary Adenomas.Frontiers in cell and developmental biology · 2022Article
- Congenital myopathy associated with a novel mutation inActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2022Article
- A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Next-Generation Sequencing Technologies and Neurogenetic Diseases.Life (Basel, Switzerland) · 2021Review
- Article
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Authors and funding
18 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChildhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 variants. This disorder presents with subtle and relatively non-specific symptoms, mimicking those observed in more common paediatric epilepsies and followed by rapid psychomotor deterioration and drug-resistant epilepsy. A prompt diagnosis is essential to adopt appropriate treatment and disease management strategies.
methodsThis is a prospective, multicentre study on the efficiency of targeted re-sequencing in the early identification of the genetic causes of childhood epilepsy, with particular regard to CLN2. After phenotypic characterization, a 283-gene Next Generation Sequencing panel was performed in 21 Italian children with neurodevelopmental abnormalities, aged between 24 and 60 months, experiencing first unprovoked seizure after 2 years of age.
resultsThe average age at enrolment was 39.9 months, with a mean age at seizure onset of 30.9 months and a mean time interval between seizure onset and targeted resequencing of 9 months. Genetic confirmation was achieved in 4 out of 21 patients, with a diagnostic yield of 19%. In one case, the homozygous splice acceptor variant c.509-1G > C in TPP1 was identified, leading to a CLN2 diagnosis. Three pathogenic variants in MECP2 were also detected in three patients, including the frameshift variant c.1157_1186delinsA (p.Leu386Hisfs*9) in a girl with negative single gene sequencing. Variants of unknown significance (VUS) were found in 11 out of 21 (52.4%) individuals, whereas no clinically significant variants were observed in the remaining 6 subjects.
conclusionsOur findings support the efficacy of target re-sequencing in the identification of the genetic causes of childhood epilepsy and suggest that this technique might prove successful in the early detection of CLN2 as well as other neurodevelopmental conditions.
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