{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T22:49:34Z","timestamp":1765493374846,"version":"3.32.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T00:00:00Z","timestamp":1729641600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T00:00:00Z","timestamp":1729641600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"DOI":"10.1007\/s12031-024-02282-8","type":"journal-article","created":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T11:03:18Z","timestamp":1729681398000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Novel Pathogenic Mutation in WNK1 Gene Causing HSAN Type II in Three Siblings"],"prefix":"10.1007","volume":"74","author":[{"given":"Maryam","family":"Naghinejad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amir","family":"Ebrahimi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmoud","family":"Shekari Khaniani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sima","family":"Mansoori Derakhshan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,10,23]]},"reference":[{"key":"2282_CR1","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1016\/B978-0-444-52902-2.00050-3","volume":"115","author":"M Auer-Grumbach","year":"2013","unstructured":"Auer-Grumbach M (2013) Hereditary sensory and autonomic neuropathies. Handb Clin Neurol 115:893\u2013906","journal-title":"Handb Clin Neurol"},{"key":"2282_CR2","doi-asserted-by":"crossref","unstructured":"Axelrod FB and Gold-von Simson G, Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet journal of rare diseases, 2007. 2: p. 1\u201312","DOI":"10.1186\/1750-1172-2-39"},{"key":"2282_CR3","unstructured":"Axelrod FB and MJ Hilz (2003) Inherited autonomic neuropathies. in Seminars in neurology. 2003. Copyright\u00a9 2003 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New\u00a0\u2026."},{"key":"2282_CR4","first-page":"340","volume-title":"Neuromuscular disorders of infancy, childhood, and adolescence","author":"FB Axelrod","year":"2015","unstructured":"Axelrod FB, Kaufmann H (2015) Hereditary sensory and autonomic neuropathies. Neuromuscular disorders of infancy, childhood, and adolescence. Elsevier, pp 340\u2013352"},{"key":"2282_CR5","doi-asserted-by":"publisher","first-page":"1673","DOI":"10.1007\/s00415-011-6397-y","volume":"259","author":"G Davidson","year":"2012","unstructured":"Davidson G et al (2012) Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. J Neurol 259:1673\u20131685","journal-title":"J Neurol"},{"key":"2282_CR6","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1146\/annurev-pathol-030320-100822","volume":"16","author":"S Ghosh","year":"2021","unstructured":"Ghosh S, Tourtellotte WG (2021) The complex clinical and genetic landscape of hereditary peripheral neuropathy. Annu Rev Pathol 16:487\u2013509","journal-title":"Annu Rev Pathol"},{"issue":"11","key":"2282_CR7","doi-asserted-by":"publisher","first-page":"2405","DOI":"10.1007\/s12031-021-01810-0","volume":"71","author":"M Khorrami","year":"2021","unstructured":"Khorrami M et al (2021) Identification of a missense variant in the EIF2B3 gene causing vanishing white matter disease with antenatal-onset but mild symptoms and long-term survival. J Mol Neurosci 71(11):2405\u20132414","journal-title":"J Mol Neurosci"},{"issue":"3","key":"2282_CR8","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1016\/j.biopsycho.2010.03.010","volume":"84","author":"SD Kreibig","year":"2010","unstructured":"Kreibig SD (2010) Autonomic nervous system activity in emotion: a review. Biol Psychol 84(3):394\u2013421","journal-title":"Biol Psychol"},{"key":"2282_CR9","unstructured":"Kurth I, Hereditary sensory and autonomic neuropathy type II. 2021"},{"issue":"3","key":"2282_CR10","doi-asserted-by":"publisher","first-page":"e7015","DOI":"10.1002\/ccr3.7015","volume":"11","author":"E Mamytova","year":"2023","unstructured":"Mamytova E et al (2023) A rare case of hereditary sensory and autonomic neuropathy type II. Clinic Case Rep 11(3):e7015","journal-title":"Clinic Case Rep"},{"issue":"1","key":"2282_CR11","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1186\/s12920-023-01680-y","volume":"16","author":"A Mir","year":"2023","unstructured":"Mir A et al (2023) Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature. BMC Med Genomics 16(1):239","journal-title":"BMC Med Genomics"},{"key":"2282_CR12","doi-asserted-by":"crossref","unstructured":"Potulska-Chromik A, et al (2012a) A novel homozygous mutation in the WNK1\/HSN2 gene causing. Hereditary sensory neuropathy type 2. Acta Biochimica Polonica 59(3)","DOI":"10.18388\/abp.2012_2131"},{"key":"2282_CR13","doi-asserted-by":"crossref","unstructured":"Potulska-Chromik A, et al (2012b) A novel homozygous mutation in the WNK1\/HSN2 gene causing hereditary sensory neuropathy type 2. Acta Biochimica Polonica 59(3)","DOI":"10.18388\/abp.2012_2131"},{"issue":"1","key":"2282_CR14","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12883-018-1201-6","volume":"18","author":"B Rahmani","year":"2018","unstructured":"Rahmani B et al (2018a) A novel nonsense mutation in WNK1\/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree. BMC Neurol 18(1):1\u20138","journal-title":"BMC Neurol"},{"key":"2282_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12883-018-1201-6","volume":"18","author":"B Rahmani","year":"2018","unstructured":"Rahmani B et al (2018b) A novel nonsense mutation in WNK1\/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree. BMC Neurol 18:1\u20138","journal-title":"BMC Neurol"},{"issue":"10","key":"2282_CR16","doi-asserted-by":"publisher","first-page":"1762","DOI":"10.1212\/01.WNL.0000161849.29944.43","volume":"64","author":"K Roddier","year":"2005","unstructured":"Roddier K et al (2005) Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology 64(10):1762\u20131767","journal-title":"Neurology"},{"issue":"10","key":"2282_CR17","doi-asserted-by":"publisher","first-page":"2699","DOI":"10.1093\/brain\/awp198","volume":"132","author":"A Rotthier","year":"2009","unstructured":"Rotthier A et al (2009) Genes for hereditary sensory and autonomic neuropathies: a genotype\u2013phenotype correlation. Brain 132(10):2699\u20132711","journal-title":"Brain"},{"issue":"1","key":"2282_CR18","doi-asserted-by":"publisher","first-page":"68","DOI":"10.4103\/ijpd.ijpd_34_22","volume":"24","author":"S Sachan","year":"2023","unstructured":"Sachan S et al (2023) Hereditary sensory and autonomic neuropathy type II in two brothers, a close differential of leprosy. Indian J Paediatric Dermatol 24(1):68\u201371","journal-title":"Indian J Paediatric Dermatol"},{"key":"2282_CR19","doi-asserted-by":"crossref","unstructured":"Salih MA, and Azzedine H (2020) Peripheral nerve disorders. Clinic Child Neurol 1195\u20131256","DOI":"10.1007\/978-3-319-43153-6_41"},{"key":"2282_CR20","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s11910-019-0974-3","volume":"19","author":"C Schwartzlow","year":"2019","unstructured":"Schwartzlow C, Kazamel M (2019) Hereditary sensory and autonomic neuropathies: adding more to the classification. Curr Neurol Neurosci Rep 19:1\u201311","journal-title":"Curr Neurol Neurosci Rep"},{"key":"2282_CR21","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1007\/978-3-031-33924-0_10","volume-title":"Clues for differential diagnosis of neuromuscular disorders","author":"F Toku\u00e7o\u011flu","year":"2023","unstructured":"Toku\u00e7o\u011flu F, Diniz G (2023) Peripheral neuropathies. Clues for differential diagnosis of neuromuscular disorders. Springer, pp 125\u2013168"},{"issue":"5","key":"2282_CR22","doi-asserted-by":"publisher","first-page":"e37751","DOI":"10.1371\/journal.pone.0037751","volume":"7","author":"E Vidal-Petiot","year":"2012","unstructured":"Vidal-Petiot E et al (2012) A new methodology for quantification of alternatively spliced exons reveals a highly tissue-specific expression pattern of WNK1 isoforms. PLoS ONE 7(5):e37751","journal-title":"PLoS ONE"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-024-02282-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12031-024-02282-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-024-02282-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T16:07:01Z","timestamp":1735920421000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12031-024-02282-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,23]]},"references-count":22,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["2282"],"URL":"https:\/\/doi.org\/10.1007\/s12031-024-02282-8","relation":{},"ISSN":["1559-1166"],"issn-type":[{"type":"electronic","value":"1559-1166"}],"subject":[],"published":{"date-parts":[[2024,10,23]]},"assertion":[{"value":"18 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 October 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was performed in line with the principles of the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Written permission has been obtained from every individual involved in the assay.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participants"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"99"}}