Novel <b><i>HIVEP2</i></b> Variants in Patients with Intellectual Disability-Reference-Cited by-同舟云学术

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Novel HIVEP2 Variants in Patients with Intellectual Disability

Published:2019 Issue:4 Volume:10 Page:195-201
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Park Joohyun,Colombo Roberto,Schäferhoff Karin,Janiri Luigi,Grimmel Mona,Sturm Marc,Grasshoff Ute,Dufke Andreas,Haack Tobias B.,Kehrer Martin

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Choi JK, Zhu A, Jenkins BG, Hattori S, Kil KE, et al: Combined behavioral studies and in vivo imaging of inflammatory response and expression of mGlu5 receptors in schnurri-2 knockout mice. Neurosci Lett 609:159-164 (2015).

2. Dörflinger U, Pscherer A, Moser M, Rümmele P, Schüle R, Buettner R: Activation of somatostatin receptor II expression by transcription factors MIBP1 and SEF-2 in the murine brain. Mol Cell Biol 19:3736-3747 (1999).

3. Fritzen D, Kuechler A, Grimmel M, Becker J, Peters S, et al: De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. Hum Genet 137:401-411 (2018).

4. Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, et al: High rate of recurrent de novo mutations in developmental and epileptic encephalopathies. Am J Hum Genet 101:664-685 (2017).

5. Helsmoortel C, Vandeweyer G, Ordoukhanian P, Van Nieuwerburgh F, Van der Aa N, Kooy RF: Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing. Clin Genet 88:140-148 (2015).

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1. Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report;Frontiers in Genetics;2023-06-27

2. MAPK Is a Mutual Pathway Targeted by Anxiety-Related miRNAs, and E2F5 Is a Putative Target for Anxiolytic miRNAs;Biomolecules;2023-03-16

3. Successful Electroconvulsive Therapy in a Patient With Catatonia and a Rare HIVEP2 Mutation;The Journal of ECT;2023-01-07

4. Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas;Genetics in Medicine Open;2023

5. Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy;Brain;2022-04-04

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