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A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype–phenotype correlation

Crossref DOI link: https://doi.org/10.1007/s11011-023-01276-6

Published Online: 2023-09-01

Published Print: 2023-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Aguech, Ameni https://orcid.org/0009-0000-0053-2961
Sfaihi, Lamia https://orcid.org/0000-0003-4480-5313
Alila-Fersi, Olfa https://orcid.org/0000-0001-6558-3997
Kolsi, Roeya https://orcid.org/0000-0002-5569-8317
Tlili, Abdelaziz https://orcid.org/0000-0002-8039-3013
Kammoun, Thouraya https://orcid.org/0000-0002-1731-6162
Fendri, Ahmed https://orcid.org/0000-0001-5199-1893
Fakhfakh, Faiza https://orcid.org/0000-0001-9782-4206
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Text and Data Mining valid from 2023-09-01

Version of Record valid from 2023-09-01
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Article History

Received: 9 May 2023

Accepted: 7 August 2023

First Online: 1 September 2023

Declarations

:

: All procedures performed were in accordance with the ethical standards of the institutional research committee and with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

: Written informed consent was obtained from the parents as legal guardians of the proband.

: The authors declare no competing interests.

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