Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome

OBJECTIVES: To describe the epilepsy, neuropsychiatric manifestations, and neuroimaging findings in a group of patients with 22q11.2 DS, and to correlate the size of the deleted genetic material with the severity of the phenotype. METHODS: We retrospectively analyzed the medical records of 28 patien...

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Detalles Bibliográficos
Autores principales: AlKalaf, Heeba Y., AlHashem, Amal M., AlSaleh, Norah S., AlJohar, Norah M., Abo Thneen, Aliyah M., ElGhezal, Hatem M., Bouhjar, Inesse B., Tlili-Graiess, Kalthoum, Sahari, Atif H., Tabarki, Brahim M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015611/
https://www.ncbi.nlm.nih.gov/pubmed/33130809
http://dx.doi.org/10.17712/nsj.2020.4.20200045

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