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Mutations in the <jats:italic>NALCN<\/jats:italic> gene have been reported in patients with infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD syndrome). We describe the case of a father with drug\u2010resistant left temporo\u2010orbitofrontal epilepsy and his son with mildly\u2010symptomatic temporal epilepsy (only recurrent d\u00e9j\u00e0 vu auras) whose genetic panels identified a likely pathogenic deletion of exon 27 on the <jats:italic>NALCN<\/jats:italic> gene. Our study helps broaden the clinical spectrum of diseases associated with mutations in the <jats:italic>NALCN<\/jats:italic> gene.<\/jats:p>","DOI":"10.1002\/ajmg.a.63209","type":"journal-article","created":{"date-parts":[[2023,4,13]],"date-time":"2023-04-13T03:04:36Z","timestamp":1681355076000},"page":"1942-1947","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel <scp><i>NALCN<\/i><\/scp> variant linked to temporal lobe epilepsy"],"prefix":"10.1002","volume":"191","author":[{"given":"Emmanuelle","family":"Nguyen","sequence":"first","affiliation":[{"name":"Neuroscience Division Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"T\u00e9treault","sequence":"additional","affiliation":[{"name":"Neuroscience Division Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"},{"name":"Department of Neuroscience Universit\u00e9 de Montr\u00e9al  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7446-0312","authenticated-orcid":false,"given":"D\u00e8nahin Hinnoutondji","family":"Toffa","sequence":"additional","affiliation":[{"name":"Neuroscience Division Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"},{"name":"Department of Neuroscience Universit\u00e9 de Montr\u00e9al  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Cossette","sequence":"additional","affiliation":[{"name":"Neuroscience Division Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"},{"name":"Department of Neuroscience Universit\u00e9 de Montr\u00e9al  Montreal Quebec Canada"},{"name":"Neurology Division Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CHUM)  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c9ric","family":"Samarut","sequence":"additional","affiliation":[{"name":"Neuroscience Division Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"},{"name":"Department of Neuroscience Universit\u00e9 de Montr\u00e9al  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dang Khoa","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Neuroscience Division Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"},{"name":"Department of Neuroscience Universit\u00e9 de Montr\u00e9al  Montreal Quebec Canada"},{"name":"Neurology Division Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CHUM)  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.001"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13162"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003095"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-48071-x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.003"},{"key":"e_1_2_9_7_1","unstructured":"ClinVar. 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