Objective: To review the concept of benign myoclonic epilepsy of infancy in the literature as compared with our series of patients.
Patients And Methods: We review the literature and describe seven personal patients, three males and four females, diagnosed with benign myoclonic epilepsy of infancy according to Dravet's criteria.
Results: Six of the seven patients were followed along 6 26 years, three of whom showed an unfavourable evolution of their intellectual and behavioral development. Three of the seven patients, not necessarily the same just mentioned, presented with generalized seizures later during their follow up: tonic clonic in one, Petit Mal status in another, and absences with marked eyelid myoclonia in the third. Four of the seven patients showed well defined eyelid myoclonias simultaneously occurring with the arms and head myoclonic seizures at the beginning of the illness, without inferring a prognostic value of their intellectual development or their response to antiepileptic treatment.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette.
Epileptic Disord
January 2025
Child Neurology and Psychiatry Unit, Dipartimento materno-infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Modeling and correction of protein conformational disease in iPSC-derived neurons through personalized base editing.
Mol Ther Nucleic Acids
March 2025
NYU Cardiovascular Research Center, NYU Grossman School of Medicine, New York, NY 100016, USA.
Altered protein conformation can cause incurable neurodegenerative disorders. Mutations in , the gene encoding neuroserpin, can alter protein conformation resulting in cytotoxic aggregation leading to neuronal death. Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare autosomal dominant progressive myoclonic epilepsy that progresses to dementia and premature death.
View Article and Find Full Text PDFWhat's the bug?: An unusual cause of bacterial meningitis in a patient with history of transsphenoidal surgery.
Am J Emerg Med
January 2025
Department of Emergency Medicine, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, United States of America. Electronic address:
Bacterial meningitis is an increasingly rare disease that carries significant morbidity and mortality. We describe the case of a 38-year-old male with a past medical history of pituitary macroadenoma with prior endonasal surgeries on prednisone therapy daily for resultant hypopituitarism and juvenile myoclonic epilepsy on lamotrigine daily who was transferred to an academic tertiary emergency department due to concern for developing pituitary apoplexy. At the outside emergency department, the patient presented complaining of sudden onset severe headache.
View Article and Find Full Text PDFDe Novo Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.
Int J Mol Sci
January 2025
Institute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.
Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.
View Article and Find Full Text PDFElectroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings.
Neurol Int
January 2025
Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.
Background/objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant.
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!