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Purpose: Malformations of cortical development (MCDs) are usually highly epileptogenic, and their hyperexcitability could facilitate the occurrence of reflex seizures. We sought to characterize reflex seizures in patients with MCDs and refractory epilepsy.
Methods: Clinical, electrographic, and neuroimaging data were reviewed in eight patients with MCDs who had reflex seizures reproduced during presurgical evaluation.
Results: All eight patients had both reflex and spontaneous seizures. In six, however, drop attacks or axial myoclonic seizures occurred only upon specific sensory stimulation. Reflex seizures were induced by more than one type of stimulus in most patients, but anatomofunctional correlations could usually be invoked. Six patients had significant intellectual impairment. Surgical resection controlled seizures in two patients.
Conclusions: Reflex seizures in patients with MCDs may be medically refractory and may often manifest as drop attacks or axial myoclonus. Surgical resection of focal lesions can bring reflex seizures under control. Putative mechanisms related to the relatively low frequency of reflex seizures in MCDs are discussed.
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http://dx.doi.org/10.1111/j.1528-1167.2005.52904.x | DOI Listing |
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inherited metabolic diseases (IMD) characterized by defects in the synthesis and modification of glycoproteins and glycolipids. One of these disorders is ATP6AP1-CDG, a rare X-linked disease with approximately 30 cases reported so far. Symptoms associated with ATP6AP1-CDG include immunodeficiency, liver dysfunction, and neurological manifestations.
View Article and Find Full Text PDFSeizure
August 2025
Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Postgraduation Programme in Clinical Medicine, Federal University of Santa Catarina, Florianópolis, SC, Brazil; Vilnius University, Faculty of Medicine, Institute of Clinical Medicine, Clinic of Neurology and Neurosurgery, Lithuania.
Purpose: Reflex epilepsies are epileptic disorders in which seizures are consistently provoked by specific, identifiable stimuli-typically sensory or cognitive. In patients with memory-induced seizures, it has long been debated whether the memory acts as the trigger for the seizure or represents its first clinical manifestation.
Methods: We present the case of a 25-year-old woman with reflex seizures triggered by the recollection of specific autobiographical memories.
Epilepsy Behav
September 2025
University of Plymouth, Plymouth PL4 8AA, UK; CIDER, Cornwall Partnership NHS Foundation Trust Truro TR4 9LD, UK.
Background: Epilepsy is prevalent in 22.2% of the intellectual disability (ID) population, with complexities spanning across health and social care sectors. Minimal research has been conducted to explore the experiences of epilepsy care within social care, despite its significance.
View Article and Find Full Text PDFEpilepsy Behav
October 2025
Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:
We are inspired by two observations and questions. 1) In most cases of sudden unexpected death in epilepsy (SUDEP) patients experience a fatal failure to breathe which onsets a few minutes after a seizure, suggested to be of neural (not mechanical) origin. If respiration is such a critical behavior, then how could the architecture of the respiratory neural circuit ever allow an extended apnea to persist until it is fatal, especially in low-risk cases (first lifetime seizure) in which the patient's brain is not measurably impaired in any way? 2) Emerging data continue to support the theory that there are often concrete, measurable physiological changes in a patient prior to SUDEP, particularly in their respiratory reflexes and apnea drive.
View Article and Find Full Text PDFEpilepsy Res
August 2025
Department of Biomedical Engineering, Johns Hopkins School of Medicine, Baltimore, MD, USA. Electronic address:
Objective: Sudden unexpected death in epilepsy (SUDEP) is suggested to be a cardiorespiratory collapse that occurs shortly after a seizure. The impacts of seizure on medullary respiratory control remain poorly understood. Prior work in rats suggests that reflexive apneas are highly fatal during seizure but well tolerated otherwise.
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