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Seizure. 2018 Mar;56:1-3. doi: 10.1016/j.seizure.2018.01.013. Epub 2018 Jan 31.

A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.

Author information

1
Department of Clinical Genetics, St. Michaels Hospital, Bristol, UK; School of Clinical Sciences, University of Bristol, Bristol, UK.
2
Department of Clinical Genetics, St. Michaels Hospital, Bristol, UK.
3
Department of Paediatric Neurology, Bristol Royal Hospital for Children, UK.
4
Department of Paediatrics, Yeovil Hospital, Somerset, UK.
5
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK.
6
Wellcome Trust Sanger Institute, Cambridge, UK.
7
Department of Clinical Genetics, St. Michaels Hospital, Bristol, UK; School of Clinical Sciences, University of Bristol, Bristol, UK. Electronic address: sarah.smithson@uhbristol.nhs.uk.
PMID:
29414593
DOI:
10.1016/j.seizure.2018.01.013
[Indexed for MEDLINE]
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