000			01586cam a2200277 4500500
005			20250121162741.0
041			_afre
042			_adc
100	1	0	_aCesaroni, Elisabetta _eauthor
700	1	0	_a Matricardi, Sara _eauthor
700	1	0	_a Cappanera, Silvia _eauthor
700	1	0	_a Marini, Carla _eauthor
245	0	0	_aFirst reported case of an inherited PACS2 pathogenic variant with variable expression
260			_c2022.
500			_a67
520			_aNeonatal epilepsy, cerebellar dysgenesis and facial dysmorphisms may be associated with de novo PACS2 missense pathogenic variants (EIEE 66) (OMIM #618067). Here, we report a toddler boy with neonatal-onset seizures, developmental delay with hypotonia, facial dysmorphisms and prominence of the cisterna magna, mild inferior vermian and cerebellar hypoplasia. A nextgeneration epilepsy gene panel revealed a known pathogenic PACS2 missense variant, p.Glu209Lys, that was inherited from his mildly affected mother. We describe the first PACS2 pathogenic variant to be inherited, expanding the clinical spectrum, associated with a mild phenotype in the mother and a more severe phenotype in her son, in keeping with previously reported descriptions.
690			_aPACS2
690			_aneonatal
690			_acerebellar dysgenesis
690			_agenetics
690			_agene
690			_aseizure
690			_aepilepsy
786	0		_nEpileptic Disorders | Vol 24 | 3 | 2022-03-01 | p. 572-576 | 1294-9361
856	4	1	_uhttps://shs.cairn.info/revue-epileptic-disorders-2022-3-page-572?lang=en&redirect-ssocas=7080
999			_c612174 _d612174