Benign myoclonic epilepsy of infancy is recognized as a generalized and idiopathic epilepsy by the International League Against Epilepsy. Unprovoked and reflex seizures have been reported in these patients. We describe a child diagnosed with benign myoclonic epilepsy of infancy, whose strictly unilateral and localized reflex myoclonias broaden the clinical spectrum of this idiopathic and generalized epileptic syndrome, and raise interrogations about its underlying pathophysiological mechanisms. [Published with video sequences].
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http://dx.doi.org/10.1684/epd.2009.0256 | DOI Listing |
Clin Neurol Neurosurg
December 2024
Pediatric Unit, Department of Medical and Surgical Sciences of Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena 41121, Italy. Electronic address:
Typical absence seizures represent a distinctive form of epileptic activity typically observed in pediatric populations, predominantly manifesting between the ages of 4 and 10, constituting Childhood Absence Epilepsy (CAE). However, a subset of patients presents with Early-onset Absence Epilepsy (EOAE), characterized by seizure onset before the fourth year of life, often displaying favorable outcomes with antiseizure medication. Conversely, atypical absence seizures exhibit prolonged duration and frequently entail tonic, atonic, or myoclonic motor elements, suggesting a more severe clinical course, commonly associated with epileptic encephalopathies of childhood onset.
View Article and Find Full Text PDFEpilepsia Open
October 2024
Goethe-University Frankfurt, Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, University Hospital Frankfurt, Frankfurt am Main, Germany.
Clin Neurophysiol
August 2024
Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine, Japan. Electronic address:
Objective: Giant somatosensory evoked potentials (SEPs) are observed in patients with cortical myoclonus. Short-latency components (SLC), are regarded as evoked epileptic activities or paroxysmal depolarization shifts (PDSs). This study aimed to reveal the electrophysiological significance of the middle-latency component (MLC) P50 of the SEPs.
View Article and Find Full Text PDFHeliyon
April 2024
Department of Cell Biology, School of Life Science, Central South University, Changsha, China.
Paroxysmal kinesigenic dyskinesia (PKD) represents the most prevalent form of paroxysmal dyskinesia, characterized by recurrent and transient attacks of involuntary movements triggered by a sudden voluntary action. In this study, whole-exome sequencing was conducted on a cohort of Chinese patients to identify causal mutations. In one young female case, a de novo variant (NM_000718.
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