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1.

GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay.

Williams, Aaron; Cooney, Erin; Segal, Gabrielle; Narayanan, Swetha; Morand, Megan; Agadi, Satish.

Am J Med Genet A ; 188(12): 3546-3549, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-36121006

2.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng, Bobby G; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A; Barone, Rita; Botto, Lorenzo D; Burton, Jennifer E; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S; Coman, David; Dipple, Katrina M; Dorrani, Naghmeh; Dobyns, William B; Elias, Abdallah F; Epstein, Leon; Gahl, William A; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E; Hunter, Jesse M; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher C Y; McKnight, Dianalee; Mendelsohn, Bryce A; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F; Olczak, Mariusz; Palmer, Christina G S; Partikian, Arthur; Patterson, Marc C; Pierson, Tyler M; Quinonez, Shane C; Regan, Brigid M; Ross, M Elizabeth; Guillen Sacoto, Maria J.

Hum Mutat ; 40(7): 908-925, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-30817854

3.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz, Kyle A; Teng, Xinchen; Coppens, Isabelle; Lamb, Heather M; Wagner, Bart E; Rosenfeld, Jill A; Chen, Xianghui; Zhang, Yu; Kim, Hee Jong; Meadow, Michael E; Wang, Tim Sen; Haberlandt, Edda D; Anderson, Glenn W; Leshinsky-Silver, Esther; Bi, Weimin; Markello, Thomas C; Pratt, Marsha; Makhseed, Nawal; Garnica, Adolfo; Danylchuk, Noelle R; Burrow, Thomas A; Jayakar, Parul; McKnight, Dianalee; Agadi, Satish; Gbedawo, Hatha; Stanley, Christine; Alber, Michael; Prehl, Isabelle; Peariso, Katrina; Ong, Min Tsui; Mordekar, Santosh R; Parker, Michael J; Crooks, Daniel; Agrawal, Pankaj B; Berry, Gerard T; Loddenkemper, Tobias; Yang, Yaping; Maegawa, Gustavo H B; Aouacheria, Abdel; Markle, Janet G; Wohlschlegel, James A; Hartman, Adam L; Hardwick, J Marie.

Ann Neurol ; 84(5): 766-780, 2018 11.

Artículo en Inglés | MEDLINE | ID: mdl-30295347

4.

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.

Dittwald, Piotr; Gambin, Tomasz; Szafranski, Przemyslaw; Li, Jian; Amato, Stephen; Divon, Michael Y; Rodríguez Rojas, Lisa Ximena; Elton, Lindsay E; Scott, Daryl A; Schaaf, Christian P; Torres-Martinez, Wilfredo; Stevens, Abby K; Rosenfeld, Jill A; Agadi, Satish; Francis, David; Kang, Sung-Hae L; Breman, Amy; Lalani, Seema R; Bacino, Carlos A; Bi, Weimin; Milosavljevic, Aleksandar; Beaudet, Arthur L; Patel, Ankita; Shaw, Chad A; Lupski, James R; Gambin, Anna; Cheung, Sau Wai; Stankiewicz, Pawel.

Genome Res ; 23(9): 1395-409, 2013 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23657883

5.

Concise Review: Prospects of Bone Marrow Mononuclear Cells and Mesenchymal Stem Cells for Treating Status Epilepticus and Chronic Epilepsy.

Agadi, Satish; Shetty, Ashok K.

Stem Cells ; 33(7): 2093-103, 2015 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-25851047

6.

Activation of extracellular regulated kinase and mechanistic target of rapamycin pathway in focal cortical dysplasia.

Patil, Vinit V; Guzman, Miguel; Carter, Angela N; Rathore, Geetanjali; Yoshor, Daniel; Curry, Daniel; Wilfong, Angus; Agadi, Satish; Swann, John W; Adesina, Adekunle M; Bhattacharjee, Meenakshi B; Anderson, Anne E.

Neuropathology ; 36(2): 146-56, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-26381727

7.

Neurophysiologic intraoperative monitoring in children with Down syndrome.

Patel, Akash J; Agadi, Satish; Thomas, Jonathan G; Schmidt, Robert J; Hwang, Steven W; Fulkerson, Daniel H; Glover, Chris D; Jea, Andrew.

Childs Nerv Syst ; 29(2): 281-7, 2013 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-23089932

8.

Response to "A graded system to categorize drug-resistant epilepsy".

Agadi, Satish; Riviello, James J; Quach, Michael M.

Epilepsia ; 52(3): 653-4, 2011 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-21395572

9.

Time from convulsive status epilepticus onset to anticonvulsant administration in children.

Sánchez Fernández, Iván; Abend, Nicholas S; Agadi, Satish; An, Sookee; Arya, Ravindra; Brenton, James Nicholas; Carpenter, Jessica L; Chapman, Kevin E; Gaillard, William D; Glauser, Tracy A; Goodkin, Howard P; Kapur, Kush; Mikati, Mohamad A; Peariso, Katrina; Ream, Margie; Riviello, James; Tasker, Robert C; Loddenkemper, Tobias.

Neurology ; 84(23): 2304-11, 2015 Jun 09.

Artículo en Inglés | MEDLINE | ID: mdl-25948729

10.

Practice trends in the utilization of intraoperative neurophysiological monitoring in pediatric neurosurgery as a function of complication rate, and patient-, surgeon-, and procedure-related factors.

Vadivelu, Sudhakar; Sivaganesan, Ahilan; Patel, Akash J; Agadi, Satish; Schmidt, Robert J; Mani, Prasitha; Jea, Andrew.

World Neurosurg ; 81(3-4): 617-23, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-24239735

11.

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.

Holder, J Lloyd; Agadi, Satish; Reese, William; Rehder, Catherine; Quach, Michael M.

JAMA Neurol ; 71(6): 782-4, 2014 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-24756183

12.

Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).

Sánchez Fernández, Iván; Abend, Nicholas S; Agadi, Satish; An, Sookee; Arya, Ravindra; Carpenter, Jessica L; Chapman, Kevin E; Gaillard, William D; Glauser, Tracy A; Goldstein, David B; Goldstein, Joshua L; Goodkin, Howard P; Hahn, Cecil D; Heinzen, Erin L; Mikati, Mohamad A; Peariso, Katrina; Pestian, John P; Ream, Margie; Riviello, James J; Tasker, Robert C; Williams, Korwyn; Loddenkemper, Tobias.

Seizure ; 23(2): 87-97, 2014 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-24183923

13.

Does Folate Supplementation Leads to Better Seizure Control with Antiepileptic Drug Therapy?

Agadi, Satish.

Indian J Pediatr ; 85(7): 489, 2018 07.

Artículo en Inglés | MEDLINE | ID: mdl-29777469

14.

Vitamin-responsive epileptic encephalopathies in children.

Agadi, Satish; Quach, Michael M; Haneef, Zulfi.

Epilepsy Res Treat ; 2013: 510529, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23984056

15.

Interhemispheric subdural electrodes: technique, utility, and safety.

Abuelem, Tarek; Friedman, David Elliot; Agadi, Satish; Wilfong, Angus A; Yoshor, Daniel.

Neurosurgery ; 73(2 Suppl Operative): ons253-60; discussion ons260, 2013 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-23615084

16.

The electroencephalogram in neonatal maple syrup urine disease: a case report.

Agadi, Satish; Sutton, Vernon R; Quach, Michael M; Riviello, James J.

Clin EEG Neurosci ; 43(1): 64-7, 2012 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-22423553

17.

Diagnosis of tuberculosis.

Agadi, Satish.

Lancet ; 361(9374): 2082; author reply 2082-3, 2003 Jun 14.

Artículo en Inglés | MEDLINE | ID: mdl-12814736

18.

Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.

Golla, Sailaja; Agadi, Satish; Burns, Dennis K; Marks, Warren; Dev Batish, Sat; del Gaudio, Daniela; Iannaccone, Susan T.

J Clin Neuromuscul Dis ; 11(4): 203-8, 2010 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-20516809

19.

Reducing the error in pediatrics dosing.

Agadi, Satish.

Arch Pediatr Adolesc Med ; 157(9): 934, 2003 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-12963602

20.

Optic nerve and chiasm enlargement in a case of infantile Krabbe disease: quantitative comparison with 26 age-matched controls.

Patel, Bhairav; Gimi, Barjor; Vachha, Behroze; Agadi, Satish; Koral, Korgun.

Pediatr Radiol ; 38(6): 697-9, 2008 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-18438656

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GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.

Concise Review: Prospects of Bone Marrow Mononuclear Cells and Mesenchymal Stem Cells for Treating Status Epilepticus and Chronic Epilepsy.

Activation of extracellular regulated kinase and mechanistic target of rapamycin pathway in focal cortical dysplasia.

Neurophysiologic intraoperative monitoring in children with Down syndrome.

Response to "A graded system to categorize drug-resistant epilepsy".

Time from convulsive status epilepticus onset to anticonvulsant administration in children.

Practice trends in the utilization of intraoperative neurophysiological monitoring in pediatric neurosurgery as a function of complication rate, and patient-, surgeon-, and procedure-related factors.

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.

Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).

Does Folate Supplementation Leads to Better Seizure Control with Antiepileptic Drug Therapy?

Vitamin-responsive epileptic encephalopathies in children.

Interhemispheric subdural electrodes: technique, utility, and safety.

The electroencephalogram in neonatal maple syrup urine disease: a case report.

Diagnosis of tuberculosis.

Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.

Reducing the error in pediatrics dosing.

Optic nerve and chiasm enlargement in a case of infantile Krabbe disease: quantitative comparison with 26 age-matched controls.