{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T00:15:30Z","timestamp":1715127330904},"reference-count":28,"publisher":"Scientific Scholar","content-domain":{"domain":["ruralneuropractice.com"],"crossmark-restriction":true},"short-container-title":["JNRP"],"abstract":"<jats:sec id=\"st1\">\n<jats:title>Objectives:<\/jats:title>\n<jats:p>The profile of seizures in neurocutaneous syndromes is variable. We aimed to define the characteristics of epilepsy in children with neurocutaneous syndromes.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st2\">\n<jats:title>Materials and Methods:<\/jats:title>\n<jats:p>Cross-sectional study over 18 months at a tertiary care pediatric hospital, including children with neurocutaneous syndromes aged between 1 and 15 years, using the 2017-International League Against Epilepsy classification.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st3\">\n<jats:title>Results:<\/jats:title>\n<jats:p>In 119 children with neurocutaneous syndromes, 94 (79%) had epilepsy. In eight children with neurofibromatosis one with epilepsy, 5 (62.5%) had generalized motor tonic-clonic seizures, 1 (12.5%) had generalized motor epileptic spasms, 1 (12.5%) had generalized motor automatism, and 1 (12.5%) had a focal seizure. In 69 children with tuberous sclerosis complex with epilepsy, 30 (43.5%) had generalized motor epileptic spasms, 23 (33.3%) had focal seizures, and nine (13.0%) had generalized motor tonic-clonic seizures. In 14 children with Sturge\u2013Weber syndrome with epilepsy, 13 (92.8%) had focal seizures, and 1 (7.2%) had generalized motor tonic seizures. Statistically significant associations were found between epilepsy and intellectual disability (<jats:italic>P<\/jats:italic> = 0.02) and behavioral problems (<jats:italic>P<\/jats:italic> = 0.00).<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st4\">\n<jats:title>Conclusion:<\/jats:title>\n<jats:p>Profiling seizures in children with neurocutaneous syndromes are paramount in devising target-specific treatments as the epileptogenesis in each syndrome differs in the molecular pathways leading to the hyperexcitability state. Further multicentric studies are required to unravel better insights into the epilepsy profile of neurocutaneous syndromes.<\/jats:p>\n<\/jats:sec>","DOI":"10.25259\/jnrp_510_2023","type":"journal-article","created":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T11:49:18Z","timestamp":1697888958000},"page":"233-237","update-policy":"http:\/\/dx.doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The profile of epilepsy and its characteristics in children with neurocutaneous syndromes"],"prefix":"10.25259","volume":"15","author":[{"given":"Lokesh","family":"Saini","sequence":"first","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swetlana","family":"Mukherjee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pradeep Kumar","family":"Gunasekaran","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arushi Gahlot","family":"Saini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chirag","family":"Ahuja","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Indar Kumar","family":"Sharawat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajni","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankita","family":"Bhati","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renu","family":"Suthar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jitendra Kumar","family":"Sahu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research, 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