Rare Genetic Disorders Associated with Intellectual Disability

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CASE REPORT

Published on 23 Dec 2024

Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings

Mustafa A. Salih
Albandary AlBakheet
Rawan Almass
Ahlam A. A. Hamed
Ali AlOdaib
Namik Kaya

doi 10.3389/fpsyt.2024.1501238

1,835 views
4 citations

ORIGINAL RESEARCH

Published on 18 Oct 2024

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4

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Mazhor AlDosary
Aljouhra AlHargan
Hanan AlQudairy
Rawan Almass
Khaled Omar Alahmadi
Saif AlShahrani
Albandary AlBakheet
Mohammad A. Almuhaizea
2 more
Namik Kaya

doi 10.3389/fpsyt.2024.1428175

1,563 views
1 citation

CASE REPORT

Published on 03 Oct 2024

Case report: A novel de novo variant of NACC1 caused epileptic encephalopathy and intellectual disability

Jiahao Wu
Jing Gan
Yimin Hua
Yifei Li
Di Qie

doi 10.3389/fpsyt.2024.1446698

1,609 views

ORIGINAL RESEARCH

Published on 14 Dec 2023

Health-related quality of life and family functioning of primary caregivers of children with down syndrome

Anna Rozensztrauch
Karolina Wieczorek
Iwona Twardak
Robert Śmigiel

doi 10.3389/fpsyt.2023.1267583

2,872 views
7 citations

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Frontiers in Psychiatry

Frontiers in Psychiatry

Intellectual Disabilities

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