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Select item 94984151.

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy

Kimberly Goodspeed, Judy S. Liu, Kimberly L. Nye, Suyash Prasad, Chanchal Sadhu, Fatemeh Tavakkoli, Deborah A. Bilder, Berge A. Minassian, Rachel M. Bailey

Genes (Basel) 2022 Sep; 13(9): 1655. Published online 2022 Sep 15. doi: 10.3390/genes13091655

PMCID:: PMC9498415

Abstract Article PDF–254K

Select item 90322422.

Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver–Brain Axis for Lipid Homeostasis

Sofia Milosavljevic, Kevin E. Glinton, Xiqi Li, Cláudia Medeiros, Patrick Gillespie, John R. Seavitt, Brett H. Graham, Sarah H. Elsea

Metabolites. 2022 Apr; 12(4): 351. Published online 2022 Apr 14. doi: 10.3390/metabo12040351

PMCID:: PMC9032242

Abstract Article PDF–1.7M

Select item 86259673.

Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder

Tanya L. Brown, Kimberly L. Nye, Brenda E. Porter

Metabolites. 2021 Nov; 11(11): 746. Published online 2021 Oct 29. doi: 10.3390/metabo11110746

PMCID:: PMC8625967

Abstract Article PDF–1.7M

Select item 72818814.

Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder

Qian-Zhou Yang, Emily M. Spelbrink, Kimberly L. Nye, Emily R. Hsu, Brenda E. Porter

Child Neurol Open. 2020 Jan-Dec; 7: 2329048X20931361. Published online 2020 Jun 8. doi: 10.1177/2329048X20931361

PMCID:: PMC7281881

Abstract Article PDF–588K

Select item 84454935.

A novel homozygous whole-gene deletion of SLC13A5 mediated by Alu-Alu mediated rearrangement in an Iraqi family with epileptic encephalopathy

Ruizhi Duan, Nebal Waill Saadi, Christopher M. Grochowski, Ghalia Bhadila, Afnan Faridoun, Tadahiro Mitani, Haowei Du, Jawid M. Fatih, Shalini N. Jhangiani, Zeynep C. Akdemir, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, Dana Marafi, James R. Lupski

Am J Med Genet A. Author manuscript; available in PMC 2021 Sep 16.

Published in final edited form as: Am J Med Genet A. 2021 Jul; 185(7): 1972–1980. Published online 2021 Apr 2. doi: 10.1002/ajmg.a.62192

PMCID:: PMC8445493

Abstract Article PDF–1.0M

Select item 78681096.

Consequences of NaCT/SLC13A5/mINDY deficiency: good versus evil, separated only by the blood–brain barrier

Jonathan J. Kopel, Yangzom D. Bhutia, Sathish Sivaprakasam, Vadivel Ganapathy

Biochem J. 2021 Feb 12; 478(3): 463–486. Published online 2021 Feb 5. doi: 10.1042/BCJ20200877

PMCID:: PMC7868109

Abstract Article PDF–1.9M

Select item 100722807.

Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system

Emily M. Spelbrink, Tanya L. Brown, Elise Brimble, Kirsten A. Blanco, Kimberly L. Nye, Brenda E. Porter

Front Genet. 2023; 14: 1109547. Published online 2023 Mar 21. doi: 10.3389/fgene.2023.1109547

PMCID:: PMC10072280

Abstract Article PDF–1.3M

Select item 53910288.

Defective enamel and bone development in sodium-dependent citrate transporter (NaCT) Slc13a5 deficient mice

Armando R. Irizarry, Guirui Yan, Qingqiang Zeng, Jonathan Lucchesi, Matthew J. Hamang, Yanfei L. Ma, James Xiaojun Rong

PLoS One. 2017; 12(4): e0175465. Published online 2017 Apr 13. doi: 10.1371/journal.pone.0175465

PMCID:: PMC5391028

Abstract Article PDF–3.1M

Select item 110129839.

X-Linked Epilepsies: A Narrative Review

Pia Bernardo, Claudia Cuccurullo, Marica Rubino, Gabriella De Vita, Gaetano Terrone, Leonilda Bilo, Antonietta Coppola

Int J Mol Sci. 2024 Apr; 25(7): 4110. Published online 2024 Apr 8. doi: 10.3390/ijms25074110

PMCID:: PMC11012983

Abstract Article PDF–18M

Select item 1093234010.

MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants

Alba Saez-Matia, Markel G. Ibarluzea, Sara M-Alicante, Arantza Muguruza-Montero, Eider Nuñez, Rafael Ramis, Oscar R. Ballesteros, Diego Lasa-Goicuria, Carmen Fons, Mónica Gallego, Oscar Casis, Aritz Leonardo, Aitor Bergara, Alvaro Villarroel

Int J Mol Sci. 2024 Mar; 25(5): 2910. Published online 2024 Mar 2. doi: 10.3390/ijms25052910

PMCID:: PMC10932340

Abstract Article PDF–2.7M

Select item 1083929311.

Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature

Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti

Epilepsia Open. 2024 Feb; 9(1): 106–121. Published online 2023 Nov 27. doi: 10.1002/epi4.12837

PMCID:: PMC10839293

Abstract Article PDF–4.6M

Select item 1081699012.

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco

Int J Mol Sci. 2024 Jan; 25(2): 1248. Published online 2024 Jan 19. doi: 10.3390/ijms25021248

PMCID:: PMC10816990

Abstract Article PDF–1.6M

Select item 1077915613.

Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy

Hueng-Chuen Fan, Ming-Tao Yang, Lung-Chang Lin, Kuo-Liang Chiang, Chuan-Mu Chen

Int J Mol Sci. 2024 Jan; 25(1): 31. Published online 2023 Dec 19. doi: 10.3390/ijms25010031

PMCID:: PMC10779156

Abstract Article PDF–1.5M

Select item 1076757614.

Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene

Jihong Hu, Juan Liu, Chunguang Guo, Yaqin Duan, Chunlei Liu, Yaqiong Tan, Ying Pan

Mol Genet Genomic Med. 2024 Jan; 12(1): e2322. Published online 2023 Nov 8. doi: 10.1002/mgg3.2322

PMCID:: PMC10767576

Abstract Article PDF–1.5M

Select item 1072451615.

Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations

Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang Deng

Mol Genet Genomic Med. 2023 Dec; 11(12): e2269. Published online 2023 Aug 18. doi: 10.1002/mgg3.2269

PMCID:: PMC10724516

Abstract Article PDF–2.3M

Select item 1069068416.

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu

Epilepsia Open. 2023 Dec; 8(4): 1383–1404. Published online 2023 Aug 25. doi: 10.1002/epi4.12811

PMCID:: PMC10690684

Abstract Article PDF–4.6M

Select item 1063701917.

A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex

D. Mammadova, J. Vecko, M. Hofmann, S. C. Schüssler, L. Deiters, A. Canda, A. K. Wieland, S. Gollwitzer, H. Hamer, Regina Trollmann

Orphanet J Rare Dis. 2023; 18: 349. Published online 2023 Nov 9. doi: 10.1186/s13023-023-02959-0

PMCID:: PMC10637019

Abstract Article PDF–953K

Select item 1062094318.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, Genomics England Research Consortium

Genet Med. 2023 Jan; 25(1): 76–89. doi: 10.1016/j.gim.2022.09.013

PMCID:: PMC10620943

Abstract Article PDF–1.2M

Select item 1052304419.

A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report

Swasti Keshri, Anil Kumar Goel, Seema Shah, Ankit Kumar Garg

Acta Biomed. 2021; 92(Suppl 1): e2021261. Published online 2021 Nov 4. doi: 10.23750/abm.v92iS1.11781

PMCID:: PMC10523044

Abstract Article PDF–483K

Select item 1047249120.

CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome

Nicola Specchio, Marina Trivisano, Matteo Lenge, Alessandro Ferretti, Davide Mei, Elena Parrini, Antonio Napolitano, Camilla Rossi-Espagnet, Giacomo Talenti, Daniela Longo, Jacopo Proietti, Francesca Ragona, Elena Freri, Roberta Solazzi, Tiziana Granata, Francesca Darra, Bernardo Dalla Bernardina, Federico Vigevano, Renzo Guerrini

Cereb Cortex. 2023 Sep 1; 33(17): 9709–9717. Published online 2023 Jul 10. doi: 10.1093/cercor/bhad235

Correction in:: Cereb Cortex. 2024 Feb; 34(2): bhae059.

PMCID:: PMC10472491

Abstract Article PDF–874K

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