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Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.

• Authors : McRae HM; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.

Subjects: Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/genetics ; Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/Mental Retardation, X-Linked*/pathology ; Repressor Proteins*/Repressor Proteins*/Repressor Proteins*/genetics Borjeson-Forssman-Lehmann syndrome

• Source: PLoS genetics [PLoS Genet] 2024 Oct 15; Vol. 20 (10), pp. e1011428. Date of Electronic Publication: 2024 Oct 15 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Mutations of the Calcium Channel Gene cacophony Suppress Seizures in Drosophila.

• Authors : Saras, Arunesh; Tanouye, Mark A

Subjects: Animals; Humans; Epilepsy

• Source: PLoS genetics. 12(1)

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SIK3 and Wnk converge on Fray to regulate glial K+ buffering and seizure susceptibility.

• Authors : Lones, Lorenzo¹ (AUTHOR); DiAntonio, Aaron^1,2 (AUTHOR)

• Source: PLoS Genetics. 1/10/2023, Vol. 18 Issue 1, p1-19. 19p.

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A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome.

• Authors : Singh, Nanda A.¹ ; Pappas, Chris¹; Dahle, E. Jill¹

• Source: PLoS Genetics. Sep2009, Vol. 5 Issue 9, p1-12. 12p. 1 Diagram, 1 Chart, 5 Graphs.

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Novel roles of ER stress in repressing neural activity and seizures through Mdm2- and p53-dependent protein translation.

• Authors : Liu, Dai-Chi¹; Eagleman, Daphne E.²; Tsai, Nien-Pei^1,2

• Source: PLoS Genetics. 9/26/2019, Vol. 15 Issue 9, p1-25. 25p.

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Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

• Authors : Paemka L; Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America.

Subjects: Seizures/Seizures/Seizures/*metabolism ; Ubiquitin Thiolesterase/Ubiquitin Thiolesterase/Ubiquitin Thiolesterase/*metabolism; Animals

• Source: PLoS genetics [PLoS Genet] 2015 Mar 12; Vol. 11 (3), pp. e1005022. Date of Electronic Publication: 2015 Mar 12 (Print Publication: 2015).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

• Authors : Arjona FJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.; de Baaij JH

Subjects: Brain/Brain/Brain/*metabolism ; Cyclins/Cyclins/Cyclins/*genetics ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics

• Source: PLoS genetics [PLoS Genet] 2014 Apr 03; Vol. 10 (4), pp. e1004267. Date of Electronic Publication: 2014 Apr 03 (Print Publication: 2014).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Novel roles of ER stress in repressing neural activity and seizures through Mdm2- and p53-dependent protein translation.

• Authors : Dai-Chi Liu; Daphne E Eagleman; Nien-Pei Tsai

Subjects: Genetics; QH426-470

• Source: PLoS Genetics, Vol 15, Iss 9, p e1008364 (2019)

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Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy.

• Authors : Asinof, Samuel K.¹; Sukoff Rizzo, Stacey J.¹; Buckley, Alexandra R.²

• Source: PLoS Genetics. Jun2015, Vol. 11 Issue 6, p1-20. 20p.

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Metabolic flux from the Krebs cycle to glutamate transmission tunes a neural brake on seizure onset.

• Authors : Jeong J; Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan, Republic of Korea.; Lee J

Subjects: Citric Acid Cycle/Citric Acid Cycle/Citric Acid Cycle/*physiology ; Glutamic Acid/Glutamic Acid/Glutamic Acid/*metabolism ; Seizures/Seizures/Seizures/*metabolism

• Source: PLoS genetics [PLoS Genet] 2021 Oct 29; Vol. 17 (10), pp. e1009871. Date of Electronic Publication: 2021 Oct 29 (Print Publication: 2021).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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