We evaluated the long-term prognosis of patients featuring the association of absences and myoclonic epilepsy of infancy. Our cohort consisted of 10 male subjects with mean age at seizure onset of 29 months. Follow-up data included seizure outcome and EEG findings. All individuals received antiepileptic drugs (AEDs) as monotherapy (6 patients) or polytherapy (4 patients) for a mean period of 24 months. Over a 30-60 month evaluation period (mean: 43 months), all patients were seizure-free. Follow-up data after withdrawal of antiepileptic therapy were obtained for a mean period of 22 months. None of the children did develop other age-related epileptic syndrome after AEDs discontinuation. Furthermore, follow-up EEG data after drugs withdrawal were normal and none of the patients showed cognitive impairment. In conclusion, we confirm that absence seizures may occur in association with myoclonic epilepsy of infancy. This condition shows excellent prognosis with either favourable neurologic development and seizure outcome in these children.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.eplepsyres.2017.08.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Broadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.
Gene
January 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
View Article and Find Full Text PDFDapagliflozin ameliorates Lafora disease phenotype in a zebrafish model.
Biomed Pharmacother
January 2025
IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, Pisa 56128, Italy.
Lafora disease (LD) is an ultra-rare and still incurable neurodegenerative condition. Although several therapeutic strategies are being explored, including gene therapy, there are currently no treatments that can alleviate the course of the disease and slow its progression. Recently, gliflozins, a series of SGLT2 transporter inhibitors approved for use in type 2 diabetes mellitus, heart failure and chronic kidney disease, have been proposed as possible repositioning drugs for the treatment of LD.
View Article and Find Full Text PDFClozapine is effective in treatment-resistant schizophrenia. However, clozapine has its own (well-) known side effects. We describe a case of a patient who developed epileptic seizures after starting clozapine.
View Article and Find Full Text PDFLafora Disease Presenting with Ataxia and DM1: A Case Study.
Acta Neurol Taiwan
December 2024
Zanjan University of Medical Sciences, Zanjan, Iran.
Here we presented a rare case of Lafora disease with neuropathy, ataxia and progression of symptoms into type one DM, GTCS and myoclonus during years. We believe that it is important to keep the diagnosis of Lafora disease in mind in every child presenting with myoclonus especially when mental and cerebellar deficits develop as well. Keywords: Drug-resistant seizure, Ataxia, Myoclonic jerky movements, Lafora.
View Article and Find Full Text PDFEngineered tRNAs efficiently suppress CDKL5 premature termination codons.
Sci Rep
December 2024
Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate (Milan), 20054, Italy.
The CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disorder characterized by early-onset epilepsy, intellectual disability, motor and visual dysfunctions. The causative gene is CDKL5, which codes for a kinase required for brain development. There is no cure for CDD patients; treatments are symptomatic and focus mainly on seizure control.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!