A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants
We detail the clinical and cerebral imaging data of our patient in the context of previously reported patients with disease-causing variants in the CCDC88A gene, emphasizing the common phenotypes, including cortical malformations, that warrant screening for sequence variants in this gene.
Authors
- Oana Tarta Arsene
- Sorina Mihaela Papuc (ORCID: https://orcid.org/0000-0002-1352-3535)
- Alina Erbescu (ORCID: https://orcid.org/0000-0003-1349-2895)
- Magdalena Budișteanu (ORCID: https://orcid.org/0000-0003-2861-236X)
- Adelina Glangher
- Aurora Arghir (ORCID: https://orcid.org/0000-0002-9315-5604)
Institutions
- Titu Maiorescu University (RO)
- Clinical Emergency Hospital Bucharest (RO)
- Institutul National Victor Babes (RO)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2024-09-27
- DOI
- https://doi.org/10.1186/s13052-024-01766-y
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- E-Rare
- Ministerul Cercetării, Inovării şi Digitalizării
- Invitae
- Autoritatea Natională pentru Cercetare Stiintifică
- Unitatea Executiva pentru Finantarea Invatamantului Superior, a Cercetarii, Dezvoltarii si Inovarii
- Colegiul Consultativ pentru Cercetare-Dezvoltare şi Inovare