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This seminar in epileptology addresses Learning Objective 6.1.4 of the International League against Epilepsy Curriculum: Demonstrate the ability to recognize and manage the special needs of persons with epilepsy (and Neurodevelopmental Disorders [NDDs]). The review identifies the essential competencies for neurologists working with people with epilepsy and NDDs, and these competencies are discussed alongside clinical examples. Furthermore, the seminar explores the opportunities offered by integrated service provision between neurology and services for NDD. The epileptic encephalopathies are not a subject of this seminar paper as they are circumscribed by other ILAE learning objectives. This seminar frames the complexity of seizures in association with NDD with a focus on major NDDs; intellectual disability, autism spectrum disorder, and attention deficit hyperactivity disorder. The evidence presented considers epidemiology, co-morbidities, risk factors, mortality, and the diagnostic and treatment challenges. People with NDDs and epilepsy have higher rates of physical and psychiatric co-morbidity, polypharmacy, neuropsychiatric side effects of drugs, and premature mortality including sudden unexpected death in epilepsy. There is a limited Level 1 evidence base to guide assessment and treatment for seizures in adults with NDDs. Therefore, throughout this seminar, the evidence presented for associations and treatment should be observed in context along with its limitations. The evidence for pharmacological treatment of seizures in association with NDDs is presented alongside expert commentary and guidance. There is Level 2 evidence to support treatment with some of the newer anti-seizure medications including brivaracetam, lacosamide, eslicarbazepine acetate, and perampanel as second-line choices. Seizures with a co-morbid NDD should be considered as a collective complex clinical presentation and not discrete conditions. This seminar was co-designed, co-produced and co-authored by an expert by experience and includes case studies and a video to highlight what can go wrong and how it can be avoided.
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http://dx.doi.org/10.1684/epd.2021.1366 | DOI Listing |
Neurol Sci
September 2025
Pediatric Neurosurgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: super-refractory status epilepticus (SRSE) is a rare and severe neurological condition associated with high mortality and significant long-term morbidity. In many cases, conventional medical treatments prove ineffective, with wide use of off-label therapies.
Methods: two researchers conducted a review of the medical records of subjects who had undergone VNS implantation in our tertiary Centre.
Eur J Case Rep Intern Med
August 2025
Division of Internal Medicine, University Hospital of Basel, Basel, Switzerland.
Unlabelled: Encephalitis is a potentially life-threatening condition with infectious or autoimmune aetiologies. Autoimmune encephalitis includes paraneoplastic variants associated with specific onconeural antibodies such as anti-Hu, frequently linked to malignancies. Herpes simplex virus type 1 (HSV-1) is the leading infectious cause in adults.
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August 2025
Department of Neurosurgery, Affiliated Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China.
Background: Slapping automatism is a type of automatism observed during epileptic seizures, but its underlying electrophysiological mechanisms remain poorly understood. Stereo-electroencephalography (SEEG) provides a unique opportunity to investigate the associated cortical areas with epileptiform discharges during the slapping automatism.
Case Report: We report five cases of drug-resistant epilepsy in which SEEG recordings captured slapping automatism.
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.
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August 2025
Genomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, Russia.
Neuronal ceroid lipofuscinosis (NCL) is one of the most common causes of childhood dementia. NCL type 5 is characterized by epileptic seizures, cognitive decline, and progressive vision loss. Whole exome sequencing was performed, and the identified variant was confirmed by Sanger sequencing.
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