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Fourteen patients reported to date show severe, early onset, drug resistant epilepsy. In a cohort of patients referred for primary microcephaly, compound heterozygosity for two unreported variants in <jats:italic>PHGDG<\/jats:italic> was identified by exome sequencing in a pair of sibs who died aged 4.5 months and 4.5 years. They had severe neurological involvement with congenital microcephaly, disorganized EEG, and progressive spasticity, but never had seizures. Exome usage in clinical practice is likely to lead to an expansion of the clinical spectrum of known disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38217","type":"journal-article","created":{"date-parts":[[2017,4,25]],"date-time":"2017-04-25T12:30:18Z","timestamp":1493123418000},"page":"1936-1942","source":"Crossref","is-referenced-by-count":12,"title":["Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6768-7818","authenticated-orcid":false,"given":"Antoine","family":"Poli","sequence":"first","affiliation":[{"name":"Department of Genetics, APHP\u2010Robert DEBRE University Hospital Paris VII\u2010Denis Diderot Medical School and INSERM UMR1141 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoann","family":"Vial","sequence":"additional","affiliation":[{"name":"Department of Genetics, APHP\u2010Robert DEBRE 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