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Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES) |
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| Institution: | 1. Danish Epilepsy Centre, Dianalund, Denmark;2. Department of Woman''s and Child''s Health, University Hospital of Padua, Italy;3. APHP, Groupe Hospitalier Pitié Salpêtrière, Unité Fonctionnelle de Génétique Médicale, Paris, France;4. Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France;5. INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France;6. Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS-Fundación Jiménez Díaz, UAM, Madrid, Spain;7. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain;8. APHP, Physiology Department, Trousseau Hospital, Paris, France;9. Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS U7104, INSERM U1258 Illkirch 67400, France;10. Department of Neurology, Strasbourg University Hospital, Université de Strasbourg Strasbourg, France;11. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy;12. Hospices Civils de Lyon, Service de Génétique, CHU de Lyon, Lyon, France;13. University of Bologna, Bologna, Italy;14. Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark;15. University of Copenhagen, Copenhagen, Denmark;1. Regional Epilepsy Centre, Great Metropolitan “Bianchi-Melacrino-Morelli Hospital”, Reggio Calabria, Italy;2. Department of Medical and Surgical Sciences, Magna Græcia University of Catanzaro, Italy;3. Institute of Molecular Bioimaging and Physiology, National Research Council, Catanzaro, Italy;1. Division of Pediatric Neurology, Department of Pediatrics, UCLA Mattel Children''s Hospital, David Geffen School of Medicine, Los Angeles, California, USA;2. Department of Neurology, Division of Epilepsy, University of California, San Francisco, San Francisco, CA, USA;3. Department of Pediatrics and Neurology, Children''s Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan, USA;4. Department of Medicine, Statistics Core, University of California, Los Angeles, Los Angeles, California, USA;5. Department of Neurology, UCLA Medical Center, David Geffen School of Medicine, Los Angeles, California, USA;1. Epilepsy Centre – Clinic of Nervous System Diseases, Riuniti Hospital, Foggia, Italy;2. Medical Genetics Units, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo, Foggia, Italy |
| Abstract: | ObjectiveTo investigate the clinical and EEG features of Encephalopathy with Status Epilepticus during slow Sleep (ESES) related to CNKSR2 pathogenic variants.MethodsDetailed clinical history, repeated wakefulness/overnight sleep EEGs, brain MRI were collected in five patients, including one female, with CNKSR2-related ESES.ResultsNeurodevelopment in infancy was normal in two patients, delayed in three. Epilepsy onset (age range: 2–6 years) was associated with appearance or aggravation of cognitive impairment, language regression and/or behavioral disorders. Worsening of epilepsy and of cognitive/behavioral disturbances paralleled by enhancement of non-rapid eye movement (NREM) sleep-related, frontally predominant, EEG epileptic discharges spike-wave-index (SWI): range 60–96%] was consistent with ESES. In three patients, episodes of absence status epilepticus or aggravation of atypical absences occurred, in this latter case associated with striking increment of awake SWI. Speech/oro-motor dyspraxia was diagnosed in four patients. In two patients, long-term follow-up showed epilepsy remission and persistence of mild/moderate cognitive disorders and behavioral disturbances into adulthood.ConclusionsNovel findings of our study are occurrence also in females, normal neurodevelopment before epilepsy onset, epilepsy aggravation associated with enhanced awake SWI, mild/moderate evolution in adulthood and language disorder due to speech/oro-motor dyspraxia.SignificanceOur findings expand the phenotypic spectrum of CNKSR2-related ESES. |
| Keywords: | ESES Encephalopathy Speech/oro-motor dyspraxia X-linked intellectual disabilities Spike-wave-index (SWI) AED"} {"#name":"keyword" "$":{"id":"k0040"} "$$":[{"#name":"text" "_":"anti-epileptic drugs array-CGH"} {"#name":"keyword" "$":{"id":"k0050"} "$$":[{"#name":"text" "_":"array-comparative genomic hybridization EAS"} {"#name":"keyword" "$":{"id":"k0060"} "$$":[{"#name":"text" "_":"epilepsia aphasia spectrum disorders EEG"} {"#name":"keyword" "$":{"id":"k0070"} "$$":[{"#name":"text" "_":"electroencephalogram ESES"} {"#name":"keyword" "$":{"id":"k0080"} "$$":[{"#name":"text" "_":"encephalopathy with status epilepticus during slow sleep MRI"} {"#name":"keyword" "$":{"id":"k0090"} "$$":[{"#name":"text" "_":"magnetic resonance imaging NGS"} {"#name":"keyword" "$":{"id":"k0100"} "$$":[{"#name":"text" "_":"next generation sequencing NREM"} {"#name":"keyword" "$":{"id":"k0110"} "$$":[{"#name":"text" "_":"non-rapid eye movement REM"} {"#name":"keyword" "$":{"id":"k0120"} "$$":[{"#name":"text" "_":"rapid eye movement SWI"} {"#name":"keyword" "$":{"id":"k0130"} "$$":[{"#name":"text" "_":"spike wave index WES"} {"#name":"keyword" "$":{"id":"k0140"} "$$":[{"#name":"text" "_":"whole exome sequencing WISC-R"} {"#name":"keyword" "$":{"id":"k0150"} "$$":[{"#name":"text" "_":"Wechsler intelligence scale for children revised WPPSI"} {"#name":"keyword" "$":{"id":"k0160"} "$$":[{"#name":"text" "_":"Wechsler preschool and primary scale of intelligence |
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