Dramatic Response to Neurostimulation in Children With Medically Intractable Epilepsy Related to Pseudoisodicentric Chromosome 15q Duplication: A Case Series - 07/08/25
Abstract |
Background |
15q11-q13 duplications (dup15q syndrome) in children with neurodevelopmental disorder may present with variable epilepsy phenotypes. The more common pseudoisodicentric or isodicentric chromosome 15 duplication often presents with medically refractory epilepsy. This case series illustrates 3 cases with dramatic response to neurostimulation in dup15q syndrome with medically refractory epilepsy.
Methods |
We present 3 clinical cases analyzed by querying the medical record. Demography, medical history, and treatment efficacy were systematically reported and analyzed.
Results |
All 3 cases showed dramatic response to neurostimulation where medication management failed. Treatment responses ranged from greater than 90% reduction in seizure frequency to seizure freedom. Moreover, all patients showed clinically significant developmental gains.
Conclusions |
Neurostimulation produced dramatic seizure reduction in our cohort of dup15q syndrome. Early neurostimulation should be considered in medically refractory epilepsy in dup15q syndrome. Further clinical trials investigating the efficacy of neurostimulation will be helpful in this rare neurodevelopmental condition.
Le texte complet de cet article est disponible en PDF.Keywords : Genetic developmental epileptic enecephalopathy, Genetic epilepsy, Vagus nerve stimulator, VNS, Responsive neurostimulation, RNS, Dup15q syndrome
Plan
| Financial associations: None. |
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| Funding: None. |
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| Additional contributions: We thank the patients for granting permission to publish this research. We confirm that this publication is original and has not been published elsewhere in any form. |
Vol 170
P. 129-132 - septembre 2025 Retour au numéro
Article précédent
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