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Letter to the Editor. Influence of rare RNF213 variants other than p.R4810K on the clinical outcomes of moyamoya disease

Shunsuke Nomura, Akitsugu Kawashima, Hiroyuki Akagawa, and Takakazu Kawamata

. This c.12086A>G (p.Q4029R) is regarded as pathogenic because its C-score (16.46) of Combined Annotation Dependent Depletion (CADD; http://cadd.gs.washington.edu/ ) 3 version 1.3 is markedly higher than that of c.14429G>A (p.R4810K) (7.374). c.12185G>A (p.R4062Q) in our patient has an even higher C-score of 31, and therefore, he showed severe clinical manifestations, despite its heterozygous genotype. To better predict clinical outcomes according to RNF213 genotypes, it is necessary to accumulate improved knowledge about the patients having different sites and

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Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing

Baran Yılmaz, Zafer Orkun Toktaş, Akın Akakın, Semra Işık, Kaya Bilguvar, Türker Kılıç, and Murat Günel

(build 131) as well as our group private exome data set (approximately 5000 chromosome) were predicted to test the novelty of variations. Variants in common with the F-AVM-2 and F-AVM-5 samples were prioritized. A loss of function (LOF) mutation followed by the missense mutations was predicted as deleterious. Missense mutations were prioritized using the following criteria: CADD_PHRED > 20 (Combined Annotation–Dependent Depletion), 17 functional effect scores calculated by SIFT, PolyPhen2, Mutation Taster, GERP, and PhyloP. Hereditary hemorrhagic telangiectasia Type 2

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Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients

Shoko Hara, Maki Mukawa, Hiroyuki Akagawa, Thiparpa Thamamongood, Motoki Inaji, Yoji Tanaka, Taketoshi Maehara, Hidetoshi Kasuya, and Tadashi Nariai

(Thermo Fisher Scientific) that was custom-designed for all exons of the RNF213 gene. Whole-exome sequencing was performed with the SureSelect Human All Exon V5 kit (Agilent Technologies Inc.) and HiSeq 2000 sequencer (Illumina). The detected candidate variants were validated with standard polymerase chain reaction–based amplification, followed by BigDye terminator cycle sequencing on a 3130xl genetic analyzer (Thermo Fisher Scientific). The functional effects of the detected variants (C-scores) were evaluated using Combined Annotation Dependent Depletion (CADD

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2019 AANS Annual Scientific Meeting

San Diego, CA • April 13–17, 2019

phagocytosis in an ERK-dependent fashion. All 3 commercially available human anti-PD-L1 antibodies also induced ERK signaling with varying efficacies. Conclusion Focal radiation combined with anti-PD-L1 therapy induces an immunological response to un-irradiated glioblastoma. We are currently optimizing other treatment combinations that could also be readily assessed in phase I human clinical trials. 207. Surgically Targeted Radiation Therapy: A Prospective Trial in 79 Recurrent, Previously Irradiated Intracranial Neoplasms Rosenblum-Mahaley Clinical Research Award Peter

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Oral Presentations from the 2020 AANS Annual Scientific Meeting

activity when mice withheld their escape response in pursuit of reward. Conclusion Cognitive control over instinctive behavior enables flexibility in the face of uncertainty. We combined neuroanatomic tracing, rodent psychophysics, and cellular-resolution optical imaging to identify a novel prefrontal-midbrain executive control circuit. Ongoing experiments will enable causal interrogation of this circuit via optogenetic activation and inhibition. As many psychiatric disorders involve deficits in executive control, insight into its precise neurophysiology will be

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Oral Presentations 2023 AANS Annual Scientific Meeting

Los Angeles, California • April 21–April 24, 2023

expected to identify a subset of ICH patients who may benefit from targeted treatment, such as surgical evacuation or hemostatic agents, at the time of presentation. Validation of this algorithm in a prospective study is warranted. A Novel Glioma Model Via Depleting Tumor Suppressing Genes in Human Brain Organoids. Presenting Author: Ahmed Habib - University of Pittsburgh Author Block: Lincoln Edwards, phd; Farrukh Hameed, MD pHD; Sanjay Singh, phD; Rivka Colen, md; pascal Zinn, MD pHD Introduction Glioblastoma (GBM) remains the most fatal primary

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Oral Presentations 2022 AANS Annual Scientific Meeting

Philadelphia, Pennsylvania • April 29–May 2, 2022

immunohistochemistry (IHC), genomic/proteomic analysis, and single-cell RNA sequencing (scRNAseq). SPAK-associated ChP targets were identified through liquid chromatography/dual mass spectroscopy (LC-MS/MS) analysis of purified SPAK-protein complex; candidates were validated by WB/IHC. Results Bumetanide-sensitive, SPAK-dependent CSF hypersecretion and ventriculomegaly was observed after intraventricular LPS or IVH infusion. LPS and IVH triggered robust ChP inflammation, and phospho-activation of SPAK, and the bumetanide-sensitive cation-chloride-cotransporter NKCC1. SPAK LC