Key result
Antiepileptic medications linked to ~100% seizure control in boys with dystrophinopathy and epilepsy.
Why the study?
Neuropsychiatric manifestations including epilepsy occur in approximately one-third of patients with dystrophinopathy, but detailed seizure characteristics are not well described.
Observational (n=8)
Yes
This small case series describes the seizure and EEG characteristics of boys with dystrophinopathy and epilepsy, noting that seizures are generally well controlled with antiepileptic medications.
Answers are grounded in this paper and cite their sources.
Seizure and EEG features in dystrophinopathy-associated epilepsy are described in a small series; leaves open prevalence, mechanisms, and management implications.
Dystrophinopathies cover a spectrum of X-linked muscle disorders including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and cardiomyopathy due to pathogenic variants in the DMD gene. Neuropsychiatric manifestations occur approximately in one-third of patients with dystrophinopathy. Epilepsy has been described. Here we report seizure and electroencephalographic features of boys with dystrophinopathy and epilepsy. This is a retrospective chart review of eight patients with dystrophinopathy and epilepsy seen at Arkansas Children's Hospital and University of Rochester Medical center. Six patients had DMD and two had BMD. Five patients had generalized epilepsy. Three patients had focal epilepsy and the seizures were intractable in two of them. Brain imaging was available for five patients and were within normal limits. EEG abnormalities were noted in six patients. Seizures were well controlled on the current antiepileptic medication regimen in all patients. Further research is needed to better elucidate the underlying mechanisms and genotype-phenotype correlations.
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Ramani et al. (2023) conducted an observational in Dystrophinopathy and epilepsy (n=8). Dystrophinopathy was evaluated on Seizure and electroencephalographic features. Among 8 boys with dystrophinopathy and epilepsy, 5 had generalized epilepsy, 3 had focal epilepsy, and seizures were well controlled on antiepileptic medications in all patients.
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