ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2022
Hippocampal sclerosis and epilepsy surgery in neurofibromatosis type 1: case report of a 3-year-old child explored by SEEG and review of the literature.
Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 6 citations in OpenAlex.
- Twins with temporal lobe epilepsy: genetic contributions to hippocampal sclerosis and other subtypes.Brain : a journal of neurology · 2025Article
- Recent advances of epilepsy associated with neurofibromatosis type 1.Frontiers in neurology · 2025Review
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6 authors at 4 institutions in 2 countries.
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Abstract
purposeEpilepsy associated with neurofibromatosis type 1 (NF1) is infrequent and usually controlled with anti-epileptic drugs. However, in some drug-resistant patients a presurgical evaluation should be considered. Hippocampal sclerosis (HS) is one of the rare causes of epilepsy in neurofibromatosis type 1, which can lead to surgery.
methodsWe present a three-year-old child with refractory epilepsy associated with several structural brain abnormalities but normal hippocampi on brain MRI and a heterozygous variant in the NF1 gene (c.2542G > A). A complete presurgical evaluation was performed including stereo-electroencephalography (SEEG).
resultsUsual seizures were recorded, and the seizure onset zone was delineated in the anterior hippocampus. Pathological examination performed after a tailored mesio-temporal resection confirmed hippocampal sclerosis, and the child achieved seizure freedom with 2 years of follow-up.
conclusionThis rare pediatric case illustrates that NF1 may be associated with early-onset refractory epilepsy secondary to MRI-negative HS, supporting the major role of SEEG in the presurgical evaluation of patients with extended cortical malformations.
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