{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:33:20Z","timestamp":1740126800022,"version":"3.37.3"},"reference-count":18,"publisher":"Georg Thieme Verlag KG","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in the SMC1A gene are often dominant-negative and cause an X-linked form of Cornelia de Lange syndrome (CdLS) with growth retardation and typical facial features. However, rare SMC1A variants cause a developmental and epileptic encephalopathy (DEE) with intractable early-onset epilepsy that is absent in CdLS. Here we describe an 11-year-old girl with epilepsy, walking disorder, and neurodevelopmental disorder. A neurophysiological examination of nerve conduction velocity showed a mixed, sensory\u2013motor, chronic 4-limb polyneuropathy. Whole-exome sequencing identified the variant c.3145C\u2009&gt;\u2009T p.(Arg1049*) in SMC1A (NM_006306.3), which can be classified as pathogenic. To the best of our knowledge, among 79 individuals with SMC1A-related DEE reported in the literature, altered peripheral nerve conduction has never been described. In this article, we propose that severe sensory\u2013motor polyneuropathy could be an expansion of the SMC1A-related phenotype.<\/jats:p>","DOI":"10.1055\/a-2447-1508","type":"journal-article","created":{"date-parts":[[2024,11,14]],"date-time":"2024-11-14T23:59:08Z","timestamp":1731628748000},"page":"056-060","source":"Crossref","is-referenced-by-count":0,"title":["Sensory\u2013Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report"],"prefix":"10.1055","volume":"56","author":[{"given":"Angelica","family":"De Luisa","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother and Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0092-5604","authenticated-orcid":false,"given":"Carlo A.","family":"Cesaroni","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother and Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marzia","family":"Pollazzon","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Mother and Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1828-4035","authenticated-orcid":false,"given":"Carlotta","family":"Spagnoli","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother and Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano G.","family":"Caraffi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Mother and Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberta","family":"Leon","sequence":"additional","affiliation":[{"name":"R & I Genetics, Italian National Health System, C.So Stati Uniti 4int.F, Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8856-9722","authenticated-orcid":false,"given":"Susanna","family":"Rizzi","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother and Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Frattini","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother and Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Cavalli","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother and Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Livia","family":"Garavelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Mother and Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Fusco","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother and Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,11,14]]},"reference":[{"issue":"05","key":"ref1","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1111\/cge.12729","article-title":"De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum","volume":"90","author":"S Jansen","year":"2016","journal-title":"Clin Genet"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1111\/epi.13669","article-title":"Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases","volume":"58","author":"J D Symonds","year":"2017","journal-title":"Epilepsia"},{"issue":"04","key":"ref3","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1002\/ajmg.a.33348","article-title":"Mutations and variants in the 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Cheng","year":"2022","journal-title":"eLife"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2447-1508.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T23:49:12Z","timestamp":1737157752000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2447-1508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,14]]},"references-count":18,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2025,1,17]]},"published-print":{"date-parts":[[2025,2]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2447-1508","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"type":"print","value":"0174-304X"},{"type":"electronic","value":"1439-1899"}],"subject":[],"published":{"date-parts":[[2024,11,14]]}}}