{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T15:34:54Z","timestamp":1785771294954,"version":"3.56.0"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T00:00:00Z","timestamp":1638921600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>TRAPPC4<\/jats:italic>\u2010related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MIM# 618741) is a recently described TRAPPopathy with clinical findings of developmental delay, seizures, postnatal microcephaly, spasticity, facial dysmorphism, and cerebral and cerebellar atrophy. Muscle involvement, a frequent finding in TRAPPopathies, was observed in one individual with <jats:italic>TRAPPC4\u2010<\/jats:italic>related disorder previously. Only a single variant, an in\u2010frame deletion in one family has been reported outside a recurrent disease\u2010causing variant. We report three individuals from two Indian families harboring novel bi\u2010allelic missense variants c.191T&gt;C and c.278C&gt;T (NM_016146.6) in <jats:italic>TRAPPC4<\/jats:italic> with classic clinical presentation in one and milder and later onset in the other family. We provide further evidence for muscle involvement and review the detailed phenotypic findings in individuals reported with this disorder till date.<\/jats:p>","DOI":"10.1111\/ahg.12452","type":"journal-article","created":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T11:25:15Z","timestamp":1638962715000},"page":"94-101","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy"],"prefix":"10.1111","volume":"86","author":[{"given":"Purvi","family":"Majethia","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle C.","family":"Do Rosario","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parneet","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2471-4094","authenticated-orcid":false,"family":"Karanvir","sequence":"additional","affiliation":[{"name":"Neurology Division, Department of Pediatrics Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raagul","family":"Shankar","sequence":"additional","affiliation":[{"name":"Neurology Division, Department of Pediatrics Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital  New Delhi 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