Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Novarino, Gaia, El-Fishawy, Paul, Kayserili, Hulya, Meguid, Nagwa A., Scott, Eric M., Schroth, Jana, Silhavy, Jennifer L., Kara, Majdi, Khalil, Rehab O., Ben-Omran, Tawfeg, Ercan-Sencicek, A. Gulhan, Hashish, Adel F., Sanders, Stephan J., Gupta, Abha R., Hashem, Hebatalla S., Matern, Dietrich, Gabriel, Stacey, Sweetman, Larry, Rahimi, Yasmeen, Harris, Robert A., State, Matthew W., Gleeson, Joseph G.·2012·Science
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- Autism Spectrum DisorderAkanksha Saxena, Maria H. Chahrour · 2017 · Elsevier eBooks
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- Neurodevelopmental DisordersW.W. Fleischhacker, David James Brooks, Prof Dr, W. W. Fleischhacker, Prof Dr, D. J. Brooks · 2005 · Springer eBooks
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- Real-time visualization of epileptic seizures using photoacoustic imaging with a peroxynitrite-responsive manganese( ii ) texaphyrinYaguang Ren, Calvin V. Chau, Tao Chen, Jingqin Chen, Yu Hu, Zhonghua Lu, James T. Brewster, Jonathan F. Arambula, Rongkang Gao, Adam C. Sedgwick et al. · 2025 · Chemical Science
- Cortical development dynamics across autism spectrum disorder mouse modelsLena A. Schwarz, Christoph P. Dotter, Sergey V. Isaev, Michela Lisi, Daniel Malzl, Christoph Bueschl, Sabrina Ladstätter, Bárbara Oliveira, Matteo Barel, Bernadette Basilico et al. · 2026 · Nature
- Genetic Approaches to Understanding Psychiatric DiseaseJacob J. Michaelson · 2017 · Neurotherapeutics
- Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case reportMaria Eleftheriadou, Evita Medici-van den Herik, Kyra Eva Stuurman, Yolande van Bever, Debby M.E.I. Hellebrekers, Marjon van Slegtenhorst, George J. G. Ruijter, Tahsin Stefan Barakat · 2021 · Molecular Genetics & Genomic Medicine
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- Branched-chain amino acids as adjunctive-alternative treatment in patients with autism: a pilot studyDespoina D. Aspragkathou, Martha G. Spilioti, Αναστασία Γκαμπέτα, Efterpi Dalpa, Vasiliki Holeva, Maria T. Papadopoulou, Aspasia Serdari, Vaios Dafoulis, Dimitrios Zafeiriou, Athanasios Evangeliou · 2023 · British Journal Of Nutrition
- The highly efficient powerhouse in the Wistar audiogenic rat, an epileptic rat strainCarlos Roberto Porto Dechandt, Tatiane M. Vicentini, Guilherme Pauperio Lanfredi, Rui Milton Patrício da Silva-Júnior, Enilza Maria Espreáfico, José Antônio Cortes de Oliveira, Vitor Marcel Faça, Norberto Garcia‐Cairasco, Luciane C. Alberici · 2018 · American Journal of Physiology-Regulatory, Integrative and Comparative Physiology
- Autophagy in Neurodevelopmental DisordersMeihong Lv, Quanhong Ma · 2020 · Advances in experimental medicine and biology
- Egypt and AutismNagwa A. Meguid · 2015 · Springer eBooks
- Branched-chain amino acids govern the high learning ability phenotype in tokai high avoider (THA) ratsShida, Yukari, Endo, Hitoshi, Owada, Satoshi, Inagaki, Yutaka, Sumiyoshi, Hideaki, Kamiya, Akihide, Eto, Tomoo, Tatemichi, Masayuki · 2021 · Scientific Reports
- Amino Acid Patterns in Children with Autistic Spectrum Disorder: A Preliminary Biochemical EvaluationSimona Ferraro, Laura Assunta Saielli, Davide Biganzoli, Martina Tosi, Laura Guidi, Roberto Longo, Francesca Severino, Stephana Carelli, Maura Rossi, Livia Pisciotta et al. · 2025 · Nutrients
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- Association between EEG Paroxysmal Abnormalities and Levels of Plasma Amino Acids and Urinary Organic Acids in Children with Autism Spectrum DisorderDaniele Marcotulli, Chiara Davico, Alessandra Somà, Guido Teghille, Giorgio Ravaglia, Federico Amianto, Federica Ricci, Maria Paola Puccinelli, Marco Spada, Benedetto Vitiello · 2022 · Children
- LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J. Louie, Olivia Larner, Robert G. Best, Kevin Chen, Josephine Morris, Zinaida Dedeić, Anna Childers, R. Curtis Rogers, Barbara R. DuPont et al. · 2024 · Human Genetics and Genomics Advances
- High-throughput sequencing of autism spectrum disorders comes of ageMingbang Wang, Xiaomei Fan, Tao Wang, Jinyu Wu · 2013 · Genetics Research
- Regulation of Dietary Amino Acids and Voltage-Gated Calcium Channels in Autism Spectrum DisorderShubham Singh, Supraj Raja Sangam, Senthilkumar Rajagopal · 2020 · Advances in neurobiology
- Maple Syrup Urine DiseaseDavid Chuang, Richard Wynn, Rody P. Cox, Jacinta L. Chuang · 2014 · Elsevier eBooks
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- Commentary: Targeting LDH enzymes with a stiripentol analog to treat epilepsyChang‐Hoon Cho · 2015 · Frontiers in Cellular Neuroscience
- Diagnosis of epilepsy by machine learning of high-performance plasma metabolic fingerprintingXiaonan Chen, Wendi Yu, Yinbing Zhao, Yuxi Ji, Ziheng Qi, Yangtai Guan, Jingjing Wan, Yong Hao · 2024 · Talanta
- Fueling the Mind: Brain Metabolism in Health and Neurodevelopmental DisordersDomenico Marano, Vittoria Mariano, Gaia Novarino · 2025 · Annual Review of Genetics
- Signaling in autism: Relevance to nutrients and sexYi‐Ping Hsueh · 2024 · Current Opinion in Neurobiology
- Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental DisordersGiovanna Cantini Tolezano, Giovanna Civitate Bastos, Silvia Souza da Costa, Marília O. Scliar, Carolina Fischinger Moura de Souza, Hélio van der Linden, Walter Luiz Magalhães Fernandes, Paulo Alberto Otto, Angela Maria Vianna‐Morgante, Luciana Amaral Haddad et al. · 2024 · Molecular Neurobiology
- Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiencyLaura Ohl, Amanda Kuhs, Ryan Pluck, Emily L. Durham, Michael Noji, Nathan Philip, Zoltan Pierre Arany, Rebecca C. Ahrens‐Nicklas · 2024 · Molecular Genetics and Metabolism Reports
- CRISPR-RfxCas13d screening uncovers Bckdk as a post-translational regulator of maternal-to-zygotic transition in teleostsLuis Hernández-Huertas, Ismael Moreno-Sánchez, Jesús Crespo-Cuadrado, Ana Vargas-Baco, Gabriel da Silva Pescador, Ying Zhang, Zhihui Wen, Laurence A. Florens, José M. Santos-Pereira, Ariel Bazzini et al. · 2025 · The EMBO Journal
- Branched Chain Amino Acids and Maple Syrup Urine DiseaseKevin H Carpenter · 2014 · Springer eBooks
- Human genetics and clinical aspects of neurodevelopmental disordersGholson J Lyon, Jason O'Rawe · 2013 · bioRxiv (Cold Spring Harbor Laboratory)
- Exploring the intersecting paths between metabolic disorders and neurological manifestationsNermin Eissa, Dana Chkier, Aala Ahmed, Reem T. Attia, Mohammed Zia, Rami Beiram, Bassem Sadek · 2026 · Heliyon
- Research advances in branched-chain amino acid metabolism in tumorsZheng Li, Sainan Chen, Xiaoyan Wu, Fei Liu, Jing Zhu, Jiayi Chen, Xiaojie Lu, Rui Chi · 2024 · Molecular and Cellular Biochemistry
- Treatments: In the waiting roomMichael S. Eisenstein · 2012 · Nature
- Targeting the metabolic profile of amino acids to identify the key metabolic characteristics in cerebral palsyDan Wang, Juan Song, Ye Cheng, Yiran Xu, Lili Song, Yimeng Qiao, Bingbing Li, Lei Xia, Ming Li, Jin Zhang et al. · 2023 · Frontiers in Molecular Neuroscience
- Role of amino acids in the pathophysiology of autism spectrum disorders in Saudi and Egyptian population samplesAfaf K El-Ansary, Sohair Aly Hassan, Mona Anwar, Ghada A Abu Shmais, Ramesa Shafi Bhat, Adel F. Hashish, Rehab G. Khalil, Laila Yousef AL-Ayadhi, Nagwa A. Meguid · 2015 · Journal of Pediatric Neurology
- Genetics and genomic medicine around the worldSuzanne Hart, Maximilian Muenke · 2014 · Molecular Genetics & Genomic Medicine
- Advances in Genetic Diagnosis of Autism Spectrum DisordersJun Shen, David T. Miller · 2014 · Current Pediatrics Reports
- Bacterial Modification of the Association Between Arsenic and Autism-Related Social Behavior ScoresHannah E. Laue, Yuka Moroishi, Brian P. Jackson, Thomas J. Palys, Emily Baker, Susan Korrick, Juliette C. Madan, Margaret Rita Karagas · 2022 · Exposure and Health
- Contribution of chromosomal abnormalities at 10q and 22q to autismNagwa A. Meguid, Maha Mohamed Eid, Amal Mahmoud Mohamed, Heba Ghannoum, Nivine A. Helmy, Ola Mohamed Eid · 2018 · Research in Autism
- Egypt and AutismNagwa A. Meguid · 2021 · Springer eBooks
- An Insight on Protein Kinases and Their Therapeutic PerspectiveAjit Kumar Dhal, Prajna Ritaparna · 2024 · Biochemistry
- BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patientsParvaneh Karimzadeh, Maryam Kachuei, Hossein Najmabadi, Mohammad Keramatipour, Mohammad Rezazadeh, Behnoosh Tasharrofi, Fatemeh KamaliTabar · 2025 · Annals of Medicine and Surgery
- Dysregulation of Glu-GABA and reduction of triglycerides contribute to valproic acid-induced autism model in zebrafishQiwen Sun, Xinyi Huang, Han Long, Jianhua Guo, Ruilin Zhang, Lu Daru, Hongyan Yao, Keji Jiang, Yan Pi . · 2025 · Journal of Lipid Research
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- Disorders of Branched-Chain Amino Acid MetabolismManuel Schiff, Jean‐François Benoist, Anaïs Brassier, Jerry E. Vockley · 2022 · Springer eBooks
- Autism and Medical ComorbiditiesManuel Schiff, Miya R. Asato · 2015 · Key issues in mental health (Online)/Key issues in mental health (Print)
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- Exposure to Toxic Environmental Agents in the Form of Fragrances and Development of Autism Spectrum Disorders (ASD)Omar Bagasra, Anisah B. Bagasra · 2019 · Advances in human services and public health (AHSPH) book series
- Amino-acid deficiency underlies rare form of autismEwen Callaway · 2012 · Nature
- BCKDK rs14235 A allele is associated with milder motor impairment and altered network topology in Parkinson’s diseaseZhichun Chen, Bin Wu, Guanglu Li, Liche Zhou, Lina Zhang, Jun Liu · 2023 · medRxiv
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- Branched chain amino acid sufficiency is necessary for proper luteinizing hormone response and testosterone synthesisYeva Shamailova, Saad A. Farooq, Megan Gilmore, Timothy J. Stanek, Esther M. Lopez, Berish B. Wetstein, Emily T. Mirek, Tracy Gautsch Anthony, Elizabeth M. Snyder · 2025 · Reproductive Biology
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- The Evolving Role and Nature of Gene Mutations in the Neuropathology of Autism Spectrum DisordersAlexis Tchaconas · 2022 · Columbia Undergraduate Science Journal
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- IntroductionMark H. Tuszynski · 2016 · Springer eBooks
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- Achieving Optimal Outcomes in Autism: Treating Potentially Reversible Conditions Associated with Autism Spectrum DisorderRichard E. Frye, Daniel A. Rossignol · 2014 · WORLD SCIENTIFIC eBooks
- Cytoplasmic Proteins as Autoantigens in the Development of Inflammatory Heart DiseaseBharathi Yalaka · 2017 · Lincoln (University of Nebraska)
- Egypt and AutismNagwa A. Meguid · 2015
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- P.1.19 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephalyLisa S. Knaus, Dora C. Tărlungeanu, Nicole Amberg, Gaia Novarino · 2019 · European Neuropsychopharmacology
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- Autism and Fragile X: Is There a Neurochemical Link?Nagwa A. Meguid, Hazem Mahmoud Atta, Laila Ahmed Rashed, Amr Sobhi Gouda, Rehab O. Khalil, Adel F. Hashish · 2014 · Open Access Macedonian Journal of Medical Sciences
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