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1.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein, Ulrike; Haack, Tobias B; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B.

Am J Hum Genet ; 110(1): 120-145, 2023 01 05.

Artículo en Inglés | MEDLINE | ID: mdl-36528028

2.

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

Pirozzi, Filomena; Berkseth, Matthew; Shear, Rylee; Gonzalez, Lorenzo; Timms, Andrew E; Sulc, Josef; Pao, Emily; Oyama, Nora; Forzano, Francesca; Conti, Valerio; Guerrini, Renzo; Doherty, Emily S; Saitta, Sulagna C; Lockwood, Christina M; Pritchard, Colin C; Dobyns, William B; Novotny, Edward; Wright, Jason N N; Saneto, Russell P; Friedman, Seth; Hauptman, Jason; Ojemann, Jeffrey; Kapur, Raj P; Mirzaa, Ghayda M.

Brain ; 145(3): 925-938, 2022 04 29.

Artículo en Inglés | MEDLINE | ID: mdl-35355055

3.

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

Emmanuele, Valentina; Ganesh, Jaya; Vladutiu, Georgirene; Haas, Richard; Kerr, Douglas; Saneto, Russell P; Cohen, Bruce H; Van Hove, Johan L K; Scaglia, Fernando; Hoppel, Charles; Rosales, Xiomara Q; Barca, Emanuele; Buchsbaum, Richard; Thompson, John L; DiMauro, Salvatore; Hirano, Michio.

Mol Genet Metab ; 136(2): 125-131, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35606253

4.

A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.

Striano, Pasquale; Auvin, Stéphane; Collins, Abigail; Horvath, Rita; Scheffer, Ingrid E; Tzadok, Michal; Miller, Ian; Kay Koenig, Mary; Lacy, Adrian; Davis, Ronald; Garcia-Cazorla, Angela; Saneto, Russell P; Brandabur, Melanie; Blair, Susan; Koutsoukos, Tony; De Vivo, Darryl.

Epilepsia ; 63(7): 1748-1760, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35441706

5.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein Tobias B Haack, Ulrike; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Jamra, Rami Abou; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B.

Am J Hum Genet ; 110(3): 548, 2023 Mar 02.

Artículo en Inglés | MEDLINE | ID: mdl-36868207

6.

The spectrum of brain malformations and disruptions in twins.

Park, Kaylee B; Chapman, Teresa; Aldinger, Kimberly A; Mirzaa, Ghayda M; Zeiger, Jordan; Beck, Anita; Glass, Ian A; Hevner, Robert F; Jansen, Anna C; Marshall, Desiree A; Oegema, Renske; Parrini, Elena; Saneto, Russell P; Curry, Cynthia J; Hall, Judith G; Guerrini, Renzo; Leventer, Richard J; Dobyns, William B.

Am J Med Genet A ; 185(9): 2690-2718, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-33205886

7.

Pediatric hemispherectomy outcome: Adaptive functioning, intelligence, and memory.

Shurtleff, Hillary A; Roberts, Emma A; Young, Christopher C; Barry, Dwight; Warner, Mary H; Saneto, Russell P; Buckley, Robert; Firman, Timothy; Poliakov, Andrew V; Ellenbogen, Richard G; Hauptman, Jason S; Ojemann, Jeffrey G; Marashly, Ahmad.

Epilepsy Behav ; 124: 108298, 2021 Sep 16.

Artículo en Inglés | MEDLINE | ID: mdl-34537627

8.

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.

Friederich, Marisa W; Perez, Francisco A; Knight, Kaz M; Van Hove, Roxanne A; Yang, Samuel P; Saneto, Russell P; Van Hove, Johan L K.

Mol Genet Metab ; 129(3): 236-242, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-31917109

9.

Immediate outcomes in early life epilepsy: A contemporary account.

Berg, Anne T; Wusthoff, Courtney; Shellhaas, Renée A; Loddenkemper, Tobias; Grinspan, Zachary M; Saneto, Russell P; Knupp, Kelly G; Patel, Anup; Sullivan, Joseph E; Kossoff, Eric H; Chu, Catherine J; Massey, Shavonne; Valencia, Ignacio; Keator, Cynthia; Wirrell, Elaine C; Coryell, Jason; Millichap, John J; Gaillard, William D.

Epilepsy Behav ; 97: 44-50, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31181428

10.

A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2Î³.

Shukla, Anju; Saneto, Russell P; Hebbar, Malavika; Mirzaa, Ghayda; Girisha, Katta M.

Am J Med Genet A ; 176(5): 1232-1237, 2018 05.

Artículo en Inglés | MEDLINE | ID: mdl-29681094

11.

Cognitive characteristics of mitochondrial diseases in children.

Shurtleff, Hillary; Barry, Dwight; Chanprasert, Sirisak; Firman, Tim; Warner, Molly; Saneto, Russell P.

Epilepsy Behav ; 88: 235-243, 2018 11.

Artículo en Inglés | MEDLINE | ID: mdl-30316150

12.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H; Dimmock, David; Enns, Gregory M; Falk, Marni J; Feigenbaum, Annette; Frye, Richard E; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C; Mancuso, Michelangelo; McCormack, Shana; Raboisson, Marie Josee; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W; Sue, Carolyn M; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A; Cunningham, Zarazuela Zolkipli; Rahman, Shamima; Chinnery, Patrick F.

Genet Med ; 19(12)2017 12.

Artículo en Inglés | MEDLINE | ID: mdl-28749475

13.

The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium.

Demarest, Scott T; Shellhaas, Renée A; Gaillard, William D; Keator, Cynthia; Nickels, Katherine C; Hussain, Shaun A; Loddenkemper, Tobias; Patel, Anup D; Saneto, Russell P; Wirrell, Elaine; Sánchez Fernández, Iván; Chu, Catherine J; Grinspan, Zachary; Wusthoff, Courtney J; Joshi, Sucheta; Mohamed, Ismail S; Stafstrom, Carl E; Stack, Cynthia V; Yozawitz, Elissa; Bluvstein, Judith S; Singh, Rani K; Knupp, Kelly G.

Epilepsia ; 58(12): 2098-2103, 2017 12.

Artículo en Inglés | MEDLINE | ID: mdl-29105055

14.

Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies.

Davies, Olivia M T; Garzon, Maria C; Frieden, Ilona J; Cottrell, Catherine E; Gripp, Karen W; Saneto, Russell P; Shwayder, Tor; Mirzaa, Ghayda M; Drolet, Beth A.

J Am Acad Dermatol ; 87(1): 162-164, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-34237354

15.

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

Parikh, Sumit; Karaa, Amel; Goldstein, Amy; Ng, Yi S; Gorman, Grainne; Feigenbaum, Annette; Christodoulou, John; Haas, Richard; Tarnopolsky, Mark; Cohen, Bruce K; Dimmock, David; Feyma, Tim; Koenig, Mary K; Mundy, Helen; Niyazov, Dmitriy; Saneto, Russell P; Wainwright, Mark S; Wusthoff, Courtney; McFarland, Robert; Scaglia, Fernando.

Mol Genet Metab ; 118(3): 178-184, 2016 07.

Artículo en Inglés | MEDLINE | ID: mdl-27312126

16.

Mutations in prickle orthologs cause seizures in flies, mice, and humans.

Tao, Hirotaka; Manak, J Robert; Sowers, Levi; Mei, Xue; Kiyonari, Hiroshi; Abe, Takaya; Dahdaleh, Nader S; Yang, Tian; Wu, Shu; Chen, Shan; Fox, Mark H; Gurnett, Christina; Montine, Thomas; Bird, Thomas; Shaffer, Lisa G; Rosenfeld, Jill A; McConnell, Juliann; Madan-Khetarpal, Suneeta; Berry-Kravis, Elizabeth; Griesbach, Hilary; Saneto, Russell P; Scott, Matthew P; Antic, Dragana; Reed, Jordan; Boland, Riley; Ehaideb, Salleh N; El-Shanti, Hatem; Mahajan, Vinit B; Ferguson, Polly J; Axelrod, Jeffrey D; Lehesjoki, Anna-Elina; Fritzsch, Bernd; Slusarski, Diane C; Wemmie, John; Ueno, Naoto; Bassuk, Alexander G.

Am J Hum Genet ; 88(2): 138-49, 2011 Feb 11.

Artículo en Inglés | MEDLINE | ID: mdl-21276947

17.

Mitochondrial translational inhibitors in the pharmacopeia.

Cohen, Bruce H; Saneto, Russell P.

Biochim Biophys Acta ; 1819(9-10): 1067-74, 2012.

Artículo en Inglés | MEDLINE | ID: mdl-22421540

18.

Stiripentol in Dravet syndrome: results of a retrospective U.S. study.

Wirrell, Elaine C; Laux, Linda; Franz, David N; Sullivan, Joseph; Saneto, Russell P; Morse, Richard P; Devinsky, Orrin; Chugani, Harry; Hernandez, Angel; Hamiwka, Lorie; Mikati, Mohamad A; Valencia, Ignacio; Le Guern, Marie-Emmanuelle; Chancharme, Laurent; de Menezes, Marcio Sotero.

Epilepsia ; 54(9): 1595-604, 2013 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23848835

19.

Tissue localization during resective epilepsy surgery.

Poliachik, Sandra L; Poliakov, Andrew V; Jansen, Laura A; McDaniel, Sharon S; Wray, Carter D; Kuratani, John; Saneto, Russell P; Ojemann, Jeffrey G; Novotny, Edward J.

Neurosurg Focus ; 34(6): E8, 2013 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-23724842

20.

Early-Life Epilepsies.

Akiyama, Lisa F; Saneto, Russell P.

Pediatr Ann ; 52(10): e381-e387, 2023 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-37820708

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

The spectrum of brain malformations and disruptions in twins.

Pediatric hemispherectomy outcome: Adaptive functioning, intelligence, and memory.

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.

Immediate outcomes in early life epilepsy: A contemporary account.

A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2Î³.

Cognitive characteristics of mitochondrial diseases in children.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium.

Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies.

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

Mutations in prickle orthologs cause seizures in flies, mice, and humans.

Mitochondrial translational inhibitors in the pharmacopeia.

Stiripentol in Dravet syndrome: results of a retrospective U.S. study.

Tissue localization during resective epilepsy surgery.

Early-Life Epilepsies.