{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T16:37:41Z","timestamp":1789663061972,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,7,26]],"date-time":"2020-07-26T00:00:00Z","timestamp":1595721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Paroxysmal kinesigenic dyskinesia (PKD) and epilepsy share common pathogenic mechanisms but their pathophysiological connections remain unknown. Our study reports an individual with both disorders as a consequence of pseudohypoparathyroidism (PHP). This observation suggests potential shared pathophysiological mechanisms between PKD and epilepsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report the case of a 15\u2010year\u2010old male with pre\u2010diagnosed PKD and symptomatic epilepsy. We recorded the symptoms and carried out comprehensive biochemical, genetic, imaging, and EEG analyses to examine the characteristics and potentially shared etiology of these conditions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this case, the patient's PKD and symptomatic epilepsy were secondary to pseudohypoparathyroidism (PHP). The patient had a seven\u2010year history of intermittent, involuntary paroxysmal episodic movements, and a six\u2010year history of a loss of consciousness with convulsions. The electroencephalography results showed that the paroxysmal low and medium amplitude slow waves, isolated sharp waves, and sharp slow\u2010wave release occurred in the right prefrontal temporal cortex. Serum analysis indicated a calcium concentration of 1.91\u00a0mmol\/L, a phosphorus concentration of 2.68\u00a0mmol\/L, an alkaline phosphatase concentration of 114\u00a0IU\/L, and a parathyroid hormone concentration of 109\u00a0pg\/ml. Computerized tomography and magnetic resonance imaging results showed multiple calcifications in the bilateral frontal and parietal lobe cortex, bilateral thalamus, basal ganglia, and centrum semiovale. Furthermore, <jats:italic>GNAS<\/jats:italic> methylation abnormalities were discovered during methylation testing. There was no recurrence of abnormal movements or epileptic seizures, and calcium concentrations returned to healthy levels, following the pharmacological treatment of PHP.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this case, PKD and symptomatic epilepsy were caused by PHP. This report underscores the importance of looking for biochemical abnormalities in PKD and symptomatic epilepsy patients. We suggest that all such intractable epilepsy seizure patients should be screened for PHP.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1423","type":"journal-article","created":{"date-parts":[[2020,7,27]],"date-time":"2020-07-27T06:18:17Z","timestamp":1595830697000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Paroxysmal dyskinesia and epilepsy in pseudohypoparathyroidism"],"prefix":"10.1002","volume":"8","author":[{"given":"Chao","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neurology Tianjin Medical University Tianjin China"},{"name":"Department of Neurology Tianjin Huanhu Hospital Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangqin","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking Union Medical College Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Electrophysiology Tianjin Huanhu Hospital Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1668-7364","authenticated-orcid":false,"given":"Wei","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Neurology Tianjin Huanhu Hospital Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.279.5349.403"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2015.04.004"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26646"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2005.39904.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00259-005-1814-z"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.14581\/jer.16006"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14511"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1048"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-018-0042-0"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22382"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)60451-2"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13709"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10126"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2017.06.004"},{"key":"e_1_2_8_16_1","first-page":"625","article-title":"Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene","volume":"27","author":"Yin X. 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