Iqsec2
What's New
Last Posted: Mar 07, 2023
- Novel and de novo mutations in pediatric refractory epilepsy.
Liu Jing, et al. Molecular brain 2018 0 (1) 48 - Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
Hynynen Johanna, et al. Epilepsia 2018 0 (11) 2125-2136 - Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
Barrie Elizabeth S, et al. European journal of medical genetics 2019 0 (3) 103735 - Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano Chihiro, et al. American journal of medical genetics. Part A 2021 0 (5) 1468-1480 - IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Shoubridge Cheryl, et al. Clinical genetics 2022 0 (1) 72-77 - Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability.
Yang Mei, et al. Epilepsy research 2021 0 106552 - Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients.
Mosallaei Meysam, et al. Molecular genetics & genomic medicine 2022 0 (4) e1894 - Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.
Trakadis Y et al. Neurogenetics 2021 - Rs2262251 in lncRNA RP11-462G12.2 is associated with nonsyndromic cleft lip with/without cleft palate.
Lu Yun, et al. Human mutation 2019 7 - Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
Balciuniene Jorune et al. JAMA network open 2019 Apr 2(4) e192129
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
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- Graves Disease
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- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Mar 27, 2024
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