{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T08:48:32Z","timestamp":1775810912255,"version":"3.50.1"},"reference-count":28,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,6,3]],"date-time":"2023-06-03T00:00:00Z","timestamp":1685750400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Medicine and Pharmacy Carol Davila"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the CASR gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hypocalcemia in the neonatal period has a wide differential diagnosis. We present the case of a female newborn with genetic hypoparathyroidism (L125P mutation of CASR gene), hypocalcemia, and neonatal seizures due to the potential correlation between refractory neonatal seizures and ADH1. Neonatal seizures were previously described in patients with ADH1 but not in association with the L125P mutation of the CASR gene. Prompt diagnosis and management by a multidisciplinary and an appropriate therapeutic approach can prevent neurological and renal complications.<\/jats:p>","DOI":"10.3390\/children10061011","type":"journal-article","created":{"date-parts":[[2023,6,5]],"date-time":"2023-06-05T01:53:25Z","timestamp":1685930005000},"page":"1011","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3038-6939","authenticated-orcid":false,"given":"Raluca Ioana","family":"Teleanu","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Clinical Neurosciences Department, Peadiatric Neurology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Department\u2014\u201cDr. Victor Gomoiu\u201d Children\u2019s Hospital, 022102 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-8201-7798","authenticated-orcid":false,"given":"Marlene Alexandra","family":"Sarman","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Clinical Neurosciences Department, Peadiatric Neurology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Department\u2014\u201cDr. Victor Gomoiu\u201d Children\u2019s Hospital, 022102 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana Anamaria","family":"Epure","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department\u2014\u201cDr. Victor Gomoiu\u201d Children\u2019s Hospital, 022102 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarita","family":"Matei","sequence":"additional","affiliation":[{"name":"Endocrinology Department\u2014\u201cDr. Victor Gomoiu\u201d Children\u2019s Hospital, 022102 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioana","family":"Ro\u015fca","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Clinical Neurosciences Department, Peadiatric Neurology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"\u201cProf. Panait Sarbu\u201d Clinical Hospital, 060251 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5061-7821","authenticated-orcid":false,"given":"Eugenia","family":"Roza","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Clinical Neurosciences Department, Peadiatric Neurology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Department\u2014\u201cDr. Victor Gomoiu\u201d Children\u2019s Hospital, 022102 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1136\/bmj.39582.589433.BE","article-title":"Diagnosis and Management of Hypocalcaemia","volume":"336","author":"Cooper","year":"2008","journal-title":"BMJ"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s13023-017-0570-z","article-title":"Diseases Associated with Calcium-Sensing Receptor","volume":"12","author":"Vahe","year":"2017","journal-title":"Orphanet J. 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