ArticleDevelopmental medicine and child neurology2015
Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.
Article in Developmental medicine and child neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.Orphanet journal of rare diseases · 2026Guideline
- A timeline of symptom onset and disease progression in CLN3 disease.Orphanet journal of rare diseases · 2026Review
- Longitudinal Exploration of Auditory Sensory-Perceptual Processing in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): A High-Density Auditory Evoked Potential (AEP) Study.bioRxiv : the preprint server for biology · 2025Article
- Impact of CLN3 Disease on Child Quality of Life and Family Function.Pediatric neurology · 2025Observational
- CLN3 disease disrupts very early postnatal hippocampal maturation.Scientific reports · 2025Article
- The parent and family impact of CLN3 disease: an observational survey-based study.Orphanet journal of rare diseases · 2024Observational
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.Genes · 2024Article
- Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions.Psychiatry research · 2024Review
- Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.International journal of molecular sciences · 2022Review
- Non-convulsive Status Epilepticus inFrontiers in pediatrics · 2022Article
- Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses.Frontiers in neurology · 2022Article
- Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.Frontiers in neurology · 2022Review
- A diagnostic confidence scheme for CLN3 disease.Journal of inherited metabolic disease · 2021Observational
- Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.Journal of inherited metabolic disease · 2021Observational
- The CLN3 Disease Staging System: A new tool for clinical research in Batten disease.Neurology · 2020Article
- Drug Treatment of Progressive Myoclonic Epilepsy.Paediatric drugs · 2020Review
- Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder.JCI insight · 2019Article
- Astrocytes in juvenile neuronal ceroid lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities.Journal of neurochemistry · 2019Article
- Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights.Degenerative neurological and neuromuscular disease · 2016Review
- Future perspectives: Moving towards NCL treatments.Biochimica et biophysica acta · 2015Review
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
aimTo evaluate seizure phenomenology, treatment, and course in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL).
methodData from an ongoing natural history study of JNCL were analyzed using cross-sectional and longitudinal methods. Seizures were evaluated with the Unified Batten Disease Rating Scale, a disease-specific quantitative assessment tool.
resultsEighty-six children (44 males, 42 females) with JNCL were assessed at an average of three annual visits (range 1-11). Eighty-six percent (n=74) experienced at least one seizure, most commonly generalized tonic-clonic, with mean age at onset of 9 years 7 months (SD 2y 10mo). Seizures were infrequent, typically occurring less often than once every 3 months, and were managed with one to two medications for most participants. Valproate (49%, n=36) and levetiracetam (41%, n=30) were the most commonly used seizure medications. Myoclonic seizures occurred infrequently (16%, n=14). Seizure severity did not vary by sex or genotype. Seizures showed mild worsening with increasing age.
interpretationThe neuronal ceroid lipofuscinoses (NCLs) represent a group of disorders unified by neurodegeneration and symptoms of blindness, seizures, motor impairment, and dementia. While NCLs are considered in the differential diagnosis of progressive myoclonus epilepsy, we show that myoclonic seizures are infrequent in JNCL. This highlights the NCLs as consisting of genetically distinct disorders with differing natural history.
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