{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T00:01:43Z","timestamp":1775260903728,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T00:00:00Z","timestamp":1467590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:p>Mutations in <jats:italic>SPATA5<\/jats:italic> have recently been shown to result in a phenotype of microcephaly, intellectual disability, seizures, and hearing loss in childhood. Our aim in this report is to delineate the SPATA5 syndrome as a clinical entity, including the facial appearance, neurophysiological, and neuroimaging findings. Using whole\u2010exome sequencing and Sanger sequencing, we identified three children with <jats:italic>SPATA5<\/jats:italic> mutations from two families. Two siblings carried compound heterozygous mutations, c.989_991del (p.Thr330del) and c.2130_2133del (p.Glu711Profs*21), and the third child had c.967T&gt;A (p.Phe323Ile) and c.2146G&gt;C (p.Ala716Pro) mutations. The three patients manifested microcephaly, psychomotor retardation, hypotonus or hypertonus, and bilateral hearing loss from early infancy. Common facies were a depressed nasal bridge\/ridge, broad eyebrows, and retrognathia. Epileptic spasms or tonic seizures emerged at 6\u201312 months of age. Interictal electroencephalography showed multifocal spikes and bursts of asynchronous diffuse spike\u2010wave complexes. Augmented amplitudes of visually evoked potentials were detected in two patients. Magnetic resonance imaging revealed hypomyelination, thin corpus callosum, and progressive cerebral atrophy. Blood copper levels were also elevated or close to the upper normal levels in these children. Clinical delineation of the <jats:italic>SPATA5<\/jats:italic>\u2010related encephalopathy should improve diagnosis, facilitating further clinical and molecular investigation.<\/jats:p>","DOI":"10.1111\/cge.12813","type":"journal-article","created":{"date-parts":[[2016,6,1]],"date-time":"2016-06-01T08:13:02Z","timestamp":1464768782000},"page":"437-444","source":"Crossref","is-referenced-by-count":23,"title":["Characterization of <i>SPATA5<\/i>\u2010related encephalopathy in early childhood"],"prefix":"10.1111","volume":"90","author":[{"given":"H.","family":"Kurata","sequence":"first","affiliation":[{"name":"Division of Child Neurology, Department of Brain, and Neurosciences, Faculty of Medicine Tottori University  Yonago Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Terashima","sequence":"additional","affiliation":[{"name":"Division of Neurology National Center for Child Health and Development  Tokyo 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