- Residency - Columbia Presbyterian Medical Center (1999-2002), Pediatric Neurology
- Internship - Washington University. St. Louis (1998-1999), Pediatrics
- Graduate School - Baylor College of Medicine (1991-1995)
- Medical School - Universidad de Granada (1984-1990)
- Other Post Graduate Training - Baylor College of Medicine (1991-1995)
Juan Pascual, M.D., Ph.D.
- Ed and Sue Rose Distinguished Professorship in Neurology
- The Once Upon a Time Foundation Professorship in Pediatric Neurologic Diseases
Juan M. Pascual, M.D., Ph.D., is the inaugural holder of The Once Upon a Time Foundation Professorship in Pediatric Neurologic Diseases and also holds the Ed and Sue Rose Distinguished Professorship in Neurology.
Dr. Pascual provides both pediatric and adult neurology care. Adults should contact the Neurology Clinic at James. W. Aston Ambulatory Care Center at 214-645-8800 to make an appointment. For pediatric appointments, please contact Children’s Medical Center using the online scheduling form, or by calling 214-456-2768.
His laboratory research interests span virtually the entire field of neuroscience, including medical neuroscience, from molecular structure and function (including drug action), neural physiology and metabolism at the cellular, circuit and whole-brain level and neurogenetics, all of which is complemented with neurological patient care and clinical trials. Laboratory research greatly influences his clinical activities and patient observations guide his laboratory research direction.
As a clinician, Dr. Pascual specializes in genetic and metabolic diseases of the nervous and neuromuscular systems of infants, children, and adults with a particular emphasis on complex diagnostic problems, second opinions for patients visiting from the rest of the U.S. and abroad, and in clinical trials. Dr. Pascual has special clinical research expertise in undiagnosed and rare diseases, glucose metabolism, mitochondrial, degenerative, and multi-organ disorders.
Dr. Pascual is a tenured faculty member in four Departments at UT Southwestern Medical Center: Neurology, Physiology, Pediatrics, and the Eugene McDermott Center for Human Growth & Development / Center for Human Genetics. He is also Director of the Rare Brain Disorders Program (Clinic and Laboratory). He is also a member of the Division of Pediatric Neurology, of the graduate Ph.D. programs in Neuroscience and Integrative Biology, and of the postgraduate clinical training programs in Neurology, Pediatric Neurology, Pediatrics, and Medical Genetics. He teaches at UT Southwestern Medical School.
Dr. Pascual directs a highly collaborative research laboratory and is credentialed campus-wide at Children's Medical Center Dallas, UT Southwestern University Hospitals and Clinics, and Parkland Memorial Hospital, where he consults on inpatients and outpatients with particularly complex or severe diseases. Much of his research is funded by the National Institutes of Health.
Dr. Pascual received his M.D. degree with unique distinction from the Universidad de Granada, Spain, one of the oldest universities in the world, founded in 1349 by Yusuf I, Sultan of Granada and one of the builders of the Alhambra. He received his Ph.D. degree in Molecular Physiology and Biophysics from Baylor College of Medicine in Houston, Texas, under Arthur M. Brown, M.D., Ph.D., McCollum Professor and Chair. His postdoctoral research was conducted under Arthur Karlin, Ph.D., Higgins Professor and Director of the Center for Molecular Recognition, College of Physicians and Surgeons of Columbia University and, later, at the Colleen Giblin Research Laboratories for Pediatric Neurology at the same institution under a Neurological Sciences Academic Development Award from the National Institute of Neurological Disorders and Stroke. He also received residency training in Pediatrics at Washington University School of Medicine - St. Louis Children’s Hospital and in Neurology and Pediatric Neurology at the Neurological Institute of New York - Columbia University Medical Center. He received certification in Neurology with Special Qualification in Child Neurology from the American Board of Psychiatry and Neurology.
As one of few actively practicing pediatric neurologists in the nation who is also a laboratory scientist, Dr. Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance (MRI) both in human subjects and in models of human diseases. His laboratory is located in the newest biomedical research building (NL) at UT Southwestern and is an integral part of the Department of Neurology. The laboratory is home to scientists from very broad backgrounds and levels of training and expertise who have joined efforts to endow both pediatric neurology and human developmental neuroscience with a strong scientific basis.
Dr. Pascual has co-authored over two dozen scientific, medical and philosophical textbooks. He is the editor, together with Dr. Roger Rosenberg of Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (5th edition, Academic Press, 2015; 6th edition in preparation). His textbook Progressive Brain Disorders in Childhood (Cambridge University Press) was published in 2017. He is working on a new book, provisionally entitled Sense & Nonsense in Medical Neuroscience: Inference & Fallacy, to be published by Cambridge University Press.
An avid reader and speaker, Dr. Pascual is also interested in the philosophy of mind. He is particularly concerned with the proper study of the human condition. Thus, he is a critic of errors commonly made by cognitive neuroscientists, which Dr. Peter Hacker has made patent. As a research and clinical neurogeneticist, he has also grown disillusioned with the current simplistic overreliance on genes as an explanation of biology or disease, just as Dr. Denis Noble has argued. Dr. Pascual is a member of the North Texas Bioethics Network.
Dr. Pascual has no interest in – nor is he sponsored by – any business that conducts medical research or lobbies for financial gain.
Publications listed in PubMed (National Library of Medicine)
- UT Southwestern Medical Center Hospitals and Clinics (2007)
- Parkland Memorial Hospital (2007)
- Children's Medical Center Dallas (2007)
- Miembro de número 2004, Academia Norteamericana de la Lengua Española
- Miembro correspondiente 2004, Real Academia Española
- Miembro de honor 2015, Academia Malagueña de Ciencias
- Young Investigator Award 2009, Neurobiology of Disease in Children
- Elected corresponding member 2010, Académie Européenne des Sciences, des Arts et des Lettres
- Research Mentor Award 2012, Children's Medical Center Dallas
- Elected full member 2013, Académie Européenne des Sciences, des Arts et des Lettres
- 100% Patient satisfaction 2013, Division of Pediatric Neurology, Children's Medical Center Dallas
Genetic disorders of neuromuscular development in Molecular Neurology, 1st edition
Pascual JM (2007), Academic Press
Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle and mitochondrial transport disorders in Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition
Tondo, M; Marin-Valencia, I; Ma, Q; Pascual, JM (2015), Academic Press
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition
Pascual, JM (Ed.); Rosenberg, RN (2015), Academic Press
Disorders of Muscle Excitability in Basic Neurochemistry, 7th and 8th edition
Pascual JM (2011), Elsevier
Kernicterus in Encyclopedia of the Neurological Sciences, 2nd edition
Pascual JM (2014), San Diego, Academic Press
Glucose transporter 1 deficiency syndrome in National Organization for Rare Disorders' Guide to Rare Disorders
Pascual JM, K. Engelstad, D. Wang, D. C. De Vivo (2002), Lippincott, Williams, and Wilkins
Encephalopathies in Neurology and Clinical Neuroscience, 1st edition
Pascual JM (2007), Mosby Elsevier
Metabolic diseases of the nervous system in Molecular Neurology, 1st edition
Pascual JM (2007), Academic Press
Developmental Neurology: a molecular perspective in Molecular Neurology, 1st edition
Pascual JM (2007), Academic Press
Disorders of glucose transport in The Molecular and Genetic Basis of Neurologic and Psychiatric Disease, 3rd and 4th editions
De Vivo DC, Wang D, Pascual JM (2008), LWW
Floppy infant syndrome in Merritt's Neurology, 11th and 12th edition
Pascual JM, De Vivo DC (2009), Lippincott, Williams & Wilkins
Pediatric neurology in On Call Neurology, 2nd and 3rd edition
Pascual JM (2007), W.B. Saunders
Glucose transporter type 1 deficiency syndrome in Merritt's Neurology, 11th and 12th edition
De Vivo DC, Pascual JM, Wang D (2009), Lippincott, Williams & Wilkins
Menkes disease and other ATP7A disorders in Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition
Pascual, JM; Menkes, JH (2015), Academic Press
Wolman disease in Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition
Marin-Valencia, I; Pascual, JM (2015), Academic Press
Glucose transporter type I haploinsufficiency in Movement Disorders, 2nd edition: Genetics and Models
Pascual JM (2014), San Diego, Academic Press
Glucose transporter type I deficiency and other glucose flux disorders in Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition
Pascual, JM; Wang, D; De Vivo, DC (2015), Academic Press
Disorders of the Krebs cycle and of pyruvate metabolism and transport in Rudolph's Pediatrics, 22nd edition
Pascual JM, DiMauro S (2011), McGraw-Hill
Progressive Brain Disorders in Childhood
Pascual JM (Author) (In press), Cambridge, UK, Cambridge University Press
The Can't and Don't of Psychopathy: Neuroimaging Technologies, Psychopaths and Criminal Responsibility in Neuroethics: Issues at the Intersection of Neuroscience and Society
Jotterand F, Pascual JM, Sadler, JZ (In press), Cambridge University Press
- Genetic disorders of neuromuscular development in Molecular Neurology, 1st edition
Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency.
Jakkamsetti V, Marin-Valencia I, Ma Q, Good LB, Terrill T, Rajasekaran K, Pichumani K, Khemtong C, Hooshyar MA, Sundarrajan C, Patel MS, Bachoo RM, Malloy CR, Pascual JM Science translational medicine 2019 Feb 11 480
Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.
Ni M, Solmonson A, Pan C, Yang C, Li D, Notzon A, Cai L, Guevara G, Zacharias LG, Faubert B, Vu HS, Jiang L, Ko B, Morales NM, Pei J, Vale G, Rakheja D, Grishin NV, McDonald JG, Gotway GK, McNutt MC, Pascual JM, DeBerardinis RJ, Cell reports 2019 Apr 27 5 1376-1386.e6
Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.
Meyer K, Kirchner M, Uyar B, Cheng JY, Russo G, Hernandez-Miranda LR, Szymborska A, Zauber H, Rudolph IM, Willnow TE, Akalin A, Haucke V, Gerhardt H, Birchmeier C, Kühn R, Krauss M, Diecke S, Pascual JM, Selbach M Cell 2018 Aug
Predicting seizure by modeling synaptic plasticity based on EEG signals - a case study of inherited epilepsy.
Zhang H, Su J, Wang Q, Liu Y, Good L, Pascual J Communications in nonlinear science & numerical simulation 2018 Mar 56 330-343
Legal and ethical implications of defining an optimum means of achieving unconsciousness in assisted dying.
Sinmyee S, Pandit VJ, Pascual JM, Dahan A, Heidegger T, Kreienbühl G, Lubarsky DA, Pandit JJ Anaesthesia 2019 Feb
Valproic Acid Enhances Glucose Transport in the Cultured Brain Astrocytes of Glucose transporter 1 Heterozygous Mice.
Kim SK, Yang H, Pascual JM, De Vivo DC Journal of child neurology 2012 Apr
[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome].
Pascual JM, Lecumberri B, Wang D, Yang R, Engelstad K, De Vivo DC Revista de neurologia 2004 May 1-15 38 9 860-4
Atlas of Inherited Metabolic Diseases, 3rd ed.
Pascual JM Archives of neurology 2012 Nov 69 11 1521-2
[Glucose transporter type 1 deficiency: a treatable neuro-metabolic disorder].
Gómez Lado C, Couce Pico ML, Sánchez-Salmón A, Pascual JM Anales de pediatría (Barcelona, Spain : 2003) 2008 Sep 69 3 285-6
Unsuspected stroke signals: From extravascular blood to vessel lumen.
Pascual JM Neuroscience letters 2012 Apr 514 1 1
Animal models of the human mind: Is there anything it is like to be autistic?
Pascual JM Neuroscience letters 2011 Oct
Diagnostic yield of clinical next-generation sequencing panels for epilepsy.
Wang J, Gotway G, Pascual JM, Park JY JAMA neurology 2014 May 71 5 650-1
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.
Ali Z, Xing C, Anwar D, Itani K, Weakley D, Gong X, Pascual JM, Mootha VV Molecular vision 2014 20 368-75
Metabolic plasticity maintains proliferation in pyruvate dehydrogenase deficient cells.
Rajagopalan KN, Egnatchik RA, Calvaruso MA, Wasti AT, Padanad MS, Boroughs LK, Ko B, Hensley CT, Acar M, Hu Z, Jiang L, Pascual JM, Scaglioni PP, DeBerardinis RJ Cancer & metabolism 2015 3 7
Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain.
Marin-Valencia I, Good LB, Ma Q, Malloy CR, Pascual JM Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2012 Oct
2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomas.
Choi C, Ganji SK, Deberardinis RJ, Hatanpaa KJ, Rakheja D, Kovacs Z, Yang XL, Mashimo T, Raisanen JM, Marin-Valencia I, Pascual JM, Madden CJ, Mickey BE, Malloy CM, Bachoo RM, Maher EA Nature medicine 2012 Jan
Synaptic transporters are deceived if they think themselves free.
Pascual JM Neuroscience letters 2011 Jan 487 1 1-2
Protean phenotypic features of the A3243G mitochondrial DNA mutation.
Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Battista V, Koenigsberger DY, Pascual JM, Sano M, Hirano M, DiMauro S, Shungu DC, Mao X, De Vivo DC Archives of neurology 2009 Jan 66 1 85-91
A mouse model for Glut-1 haploinsufficiency.
Wang D, Pascual JM, Yang H, Engelstad K, Mao X, Cheng J, Yoo J, Noebels JL, De Vivo DC Human molecular genetics 2006 Apr 15 7 1169-79
[Neonatal myasthenic syndromes].
Koenigsberger MR, Pascual JM Revista de neurologia 2002 Jan 1-15 34 1 47-51
State-dependent accessibility and electrostatic potential in the channel of the acetylcholine receptor. Inferences from rates of reaction of thiosulfonates with substituted cysteines in the M2 segment of the alpha subunit.
Pascual JM, Karlin A The Journal of general physiology 1998 Jun 111 6 717-39
Ataxia and weakness in a young woman.
Beh SC, Nations S, Pascual JM, Vernino S Archives of neurology 2012 Jul 69 7 924-7
Age-dependent changes of cerebral copper metabolism in Atp7b (-/-) knockout mouse model of Wilson's disease by [(64)Cu]CuCl2-PET/CT.
Xie F, Xi Y, Pascual JM, Muzik O, Peng F Metabolic brain disease 2017 Jan
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar
The life, times and work of Charles R. Roe, M.D.
Pascual JM Neuroscience letters 2016 Aug
Deregulation of mitochondrial F1FO-ATP synthase via OSCP in Alzheimer's disease.
Beck SJ, Guo L, Phensy A, Tian J, Wang L, Tandon N, Gauba E, Lu L, Pascual JM, Kroener S, Du H Nature communications 2016 7 11483
Acute effect of glucose on cerebral blood flow, blood oxygenation, and oxidative metabolism.
Xu F, Liu P, Pascual JM, Xiao G, Huang H, Lu H Human brain mapping 2014 Oct
Triheptanoin for Glucose Transporter Type I Deficiency (G1D): Modulation of Human Ictogenesis, Cerebral Metabolic Rate, and Cognitive Indices by a Food Supplement.
Pascual JM, Liu P, Mao D, Kelly DI, Hernandez A, Sheng M, Good LB, Ma Q, Marin-Valencia I, Zhang X, Park JY, Hynan LS, Stavinoha P, Roe CR, Lu H JAMA neurology 2014 Aug
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ Molecular genetics and metabolism 2013 Jul
Systemic Metabolic Abnormalities in Adult-onset Acid Maltase Deficiency: Beyond Muscle Glycogen Accumulation.
Pascual JM, Roe CR JAMA neurology 2013 Apr 1-8
Metabolism of [U-(13) C]glucose in human brain tumors in vivo.
Maher EA, Marin-Valencia I, Bachoo RM, Mashimo T, Raisanen J, Hatanpaa KJ, Jindal A, Jeffrey FM, Choi C, Madden C, Mathews D, Pascual JM, Mickey BE, Malloy CR, Deberardinis RJ NMR in biomedicine 2012 Mar
Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumors.
Marin-Valencia I, Cho SK, Rakheja D, Hatanpaa KJ, Kapur P, Mashimo T, Jindal A, Vemireddy V, Good LB, Raisanen J, Sun X, Mickey B, Choi C, Takahashi M, Togao O, Pascual JM, Deberardinis RJ, Maher EA, Malloy CR, Bachoo RM NMR in biomedicine 2012 Mar
Effect of hypoxia and hyperoxia on cerebral blood flow, blood oxygenation, and oxidative metabolism.
Xu F, Liu P, Pascual JM, Xiao G, Lu H Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2012 Jun
Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivo.
Marin-Valencia I, Yang C, Mashimo T, Cho S, Baek H, Yang XL, Rajagopalan KN, Maddie M, Vemireddy V, Zhao Z, Cai L, Good L, Tu BP, Hatanpaa KJ, Mickey BE, Matés JM, Pascual JM, Maher EA, Malloy CR, Deberardinis RJ, Bachoo RM Cell metabolism 2012 Jun 15 6 827-37
Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet (13)C NMR of the adult mouse brain.
Marin-Valencia I, Good LB, Ma Q, Malloy CR, Patel MS, Pascual JM Neurochemistry international 2012 Aug
High-resolution detection of (13)C multiplets from the conscious mouse brain by ex vivo NMR spectroscopy.
Marin-Valencia I, Good LB, Ma Q, Jeffrey FM, Malloy CR, Pascual JM Journal of neuroscience methods 2011 Sep
Measurement of glycine in the human brain in vivo by (1) H-MRS at 3 T: application in brain tumors.
Choi C, Ganji SK, Deberardinis RJ, Dimitrov IE, Pascual JM, Bachoo R, Mickey BE, Malloy CR, Maher EA Magnetic resonance in medicine : official journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine 2011 Mar 609-18
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C Lancet neurology 2010 Jan 9 1
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C Lancet neurology 2010 Feb 9 2
Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.
Wang D, Yang H, Shi L, Ma L, Fujii T, Engelstad K, Pascual JM, De Vivo DC Pediatric research 2008 Nov 64 5 538-43
[Glucose transport hereditary diseases].
Pascual JM Medicina clínica 2006 Nov 127 18 709-14
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation.
Kaufmann P, Pascual JM, Anziska Y, Gooch CL, Engelstad K, Jhung S, DiMauro S, De Vivo DC Archives of neurology 2006 May 63 5 746-8
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
Oskoui M, Davidzon G, Pascual J, Erazo R, Gurgel-Giannetti J, Krishna S, Bonilla E, De Vivo DC, Shanske S, DiMauro S Archives of neurology 2006 Aug 63 8 1122-6
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, De Vivo DC Annals of neurology 2005 Jan 57 1 111-8
[Progresses in studies on the glucose transporter deficiency syndrome].
Wang D, Sun RP, Wang X, Yang R, Yang H, Pascual JM, De Vivo DC Zhonghua er ke za zhi. Chinese journal of pediatrics 2004 Oct 42 10 756-8
GLUT1 deficiency and other glucose transporter diseases.
Pascual JM, Wang D, Lecumberri B, Yang H, Mao X, Yang R, De Vivo DC European journal of endocrinology / European Federation of Endocrine Societies 2004 May 150 5 627-33
Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease.
Kulikova-Schupak R, Knupp KG, Pascual JM, Chin SS, Kairam R, Patterson MC Journal of child neurology 2004 Jan 19 1 59-62
Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency.
Wang D, Pascual JM, Iserovich P, Yang H, Ma L, Kuang K, Zuniga FA, Sun RP, Swaroop KM, Fischbarg J, De Vivo DC The Journal of biological chemistry 2003 Dec 278 49 49015-21
[Cerebral palsy: prenatal risk factors].
Pascual JM, Koenigsberger MR Revista de neurologia 2003 Aug 1-15 37 3 275-80
Imaging the metabolic footprint of Glut1 deficiency on the brain.
Pascual JM, Van Heertum RL, Wang D, Engelstad K, De Vivo DC Annals of neurology 2002 Oct 52 4 458-64
Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer.
Iserovich P, Wang D, Ma L, Yang H, Zuniga FA, Pascual JM, Kuang K, De Vivo DC, Fischbarg J The Journal of biological chemistry 2002 Aug 277 34 30991-7
Glucose transporter protein syndromes.
De Vivo DC, Wang D, Pascual JM, Ho YY International review of neurobiology 2002 51 259-88
The intrinsic electrostatic potential and the intermediate ring of charge in the acetylcholine receptor channel.
Wilson GG, Pascual JM, Brooijmans N, Murray D, Karlin A The Journal of general physiology 2000 Feb 115 2 93-106
Contribution of the NH2 terminus of Kv2.1 to channel activation.
Pascual JM, Shieh CC, Kirsch GE, Brown AM The American journal of physiology 1997 Dec 273 6 Pt 1
Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry.
Hao J, Kelly DI, Su J, Pascual JM JAMA neurology 2017 Apr
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.
Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule DM, Battista V, Koenigsberger DY, Pascual JM, Shanske S, Sano M, Mao X, Hirano M, Shungu DC, Dimauro S, De Vivo DC Neurology 2011 Nov 77 22 1965-71
Brain glucose supply and the syndrome of infantile neuroglycopenia.
Pascual JM, Wang D, Hinton V, Engelstad K, Saxena CM, Van Heertum RL, De Vivo DC Archives of neurology 2007 Apr 64 4 507-13
Functional role of a conserved aspartate in the external mouth of voltage-gated potassium channels.
Kirsch GE, Pascual JM, Shieh CC Biophysical journal 1995 May 68 5
Oxidation of [U-(13) C]glucose in the human brain at 7T under steady state conditions.
Cheshkov S, Dimitrov IE, Jakkamsetti V, Good L, Kelly D, Rajasekaran K, DeBerardinis RJ, Pascual JM, Sherry AD, Malloy CR Magnetic resonance in medicine 2017 Jan
Frontotemporal Degeneration in a Child.
Terrill T, Pascual JM Pediatric neurology 2017 Apr
Understanding Atomic Interactions to Achieve Well-being.
Pascual JM JAMA neurology 2016 Apr
Modeling of brain metabolism and pyruvate compartmentation using (13)C NMR in vivo: caution required.
Jeffrey FM, Marin-Valencia I, Good LB, Shestov AA, Henry PG, Pascual JM, Malloy CR Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2013 May
Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet.
Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J Pediatric neurology 2013 Dec
Glut1 deficiency (G1D): Epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype.
Marin-Valencia I, Good LB, Ma Q, Duarte J, Bottiglieri T, Sinton CM, Heilig CW, Pascual JM Neurobiology of disease 2012 Apr
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
Marin-Valencia I, Roe CR, Pascual JM Molecular genetics and metabolism 2010 Sep 101 1 9-17
Epilepsy in inherited metabolic disorders.
Pascual JM, Campistol J, Gil-Nagel A The neurologist 2008 Nov 14 6 Suppl 1 S2-S14
Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.
Pascual JM, Wang D, Yang R, Shi L, Yang H, De Vivo DC The Journal of biological chemistry 2008 Jun 283 24 16732-42
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
Brockmann K, Wang D, Korenke CG, von Moers A, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, Fischbarg J, Hanefeld F, De Vivo DC Annals of neurology 2001 Oct 50 4 476-85
Poor school and cognitive functioning with silent cerebral infarcts and sickle cell disease.
Schatz J, Brown RT, Pascual JM, Hsu L, DeBaun MR Neurology 2001 Apr 56 8 1109-11
Delimiting the binding site for quaternary ammonium lidocaine derivatives in the acetylcholine receptor channel.
Pascual JM, Karlin A The Journal of general physiology 1998 Nov 112 5 611-21
Preventing misfolded neuronal protein aggregation by molecular diplomacy.
Pascual JM Neuroscience letters 2009 Jan 449 2 85-6
Genetic Gradients in Epileptic Brain Malformations.
Pascual JM JAMA neurology 2016 May
Intramyocellular lipid excess in the mitochondrial disorder MELAS: MRS determination at 7T.
Golla S, Ren J, Malloy CR, Pascual JM Neurology. Genetics 2017 Jun 3 3 e160
IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy.
Eksambe D, Agim N, Uddin N, Gotway G, Pascual JM JAMA neurology 2015 Dec 72 12 1533-1535
Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome.
Pérez-Dueñas B, Prior C, Ma Q, Fernández-Alvarez E, Setoain X, Artuch R, Pascual JM Archives of neurology 2009 Nov 66 11 1410-4
Pascual JM Revista de neurologia 2006 Dec 16-31 43 12 753-7
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial.
Kaufmann P, Engelstad K, Wei Y, Jhung S, Sano MC, Shungu DC, Millar WS, Hong X, Gooch CL, Mao X, Pascual JM, Hirano M, Stacpoole PW, DiMauro S, De Vivo DC Neurology 2006 Feb 66 3 324-30
Fever, molecular excitability and epilepsy.
Pascual JM Neuroscience letters 2004 Sep 368 1 1
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
Lee EE, Ma J, Sacharidou A, Mi W, Salato VK, Nguyen N, Jiang Y, Pascual JM, North PE, Shaul PW, Mettlen M, Wang RC Molecular cell 2015 May
Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice.
Stoodley CJ, D'Mello AM, Ellegood J, Jakkamsetti V, Liu P, Nebel MB, Gibson JM, Kelly E, Meng F, Cano CA, Pascual JM, Mostofsky SH, Lerch JP, Tsai PT Nature neuroscience 2017 Dec 20 12 1744-1751
Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease.
Pascual JM, Ronen GM Pediatric neurology 2015 Aug
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.
Pérez-Dueñas B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra C, De Grandis E, Marfa MP, García-Cazorla A, Campistol J, Pascual JM, Artuch R Archives of neurology 2011 May 68 5 615-21
K+ pore structure revealed by reporter cysteines at inner and outer surfaces.
Pascual JM, Shieh CC, Kirsch GE, Brown AM Neuron 1995 May 14 5
Multiple residues specify external tetraethylammonium blockade in voltage-gated potassium channels.
Pascual JM, Shieh CC, Kirsch GE, Brown AM Biophysical journal 1995 Aug 69 2
Exosomes in disease: Epigenetic signals from the nervous system to the rest of the organism.
Pascual JM, Noble D, Neuroscience letters 2019 Aug 708 134293
GLUT1 deficiency: Retinal detrimental effects of gliovascular modulation.
Henry M, Kitchens J, Pascual JM, Maldonado RS, Neurology. Genetics 2020 Aug 6 4 e472
Triheptanoin Mitigates Brain ATP Depletion and Mitochondrial Dysfunction in a Mouse Model of Alzheimer's Disease.
Yuan X, Wang L, Tendon N, Sun H, Tian J, Du H, Pascual JM, Guo L, Journal of Alzheimer's disease : JAD 2020 Sep
Metabolism-based therapies for epilepsy: new directions for future cures.
Cervenka M, Pascual JM, Rho J, Thiele E, Yellen G, Whittemore V, Hartman AL, Annals of clinical and translational neurology 2021 Jul
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, De Giorgis V, Della Marina A, Engelstad K, Heussinger N, Kossoff EH, Leen WG, Leiendecker B, Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC, Epilepsia open 2020 Sep 5 3 354-365
Development and validation of a LC-MS/MS method for quantitation of 3-hydroxypentanoic acid and 3-oxopentanoic acid in human plasma and its application to a clinical study of glucose transporter type I deficiency (G1D) syndrome.
Kallem RR, Primeaux S, Avila A, Pascual JM, Putnam WC, Journal of pharmaceutical and biomedical analysis 2021 Aug 205 114335
Quantification of early learning and movement sub-structure predictive of motor performance.
Jakkamsetti V, Scudder W, Kathote G, Ma Q, Angulo G, Dobariya A, Rosenberg RN, Beutler B, Pascual JM, Scientific reports 2021 Jul 11 1 14405
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA, Pascual JM, Gotway G, Park JY, JAMA network open 2020 Apr 3 4 e203812
- Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency.
- 2-hit, multiple-gene and explanatory validity of complex causation models
- Brain metabolism
- Clinical trials for neurological and genetic disorders
- Whole exome and genome analyses in neurological disorders
- Sentience, autonomy and sources of truth
- Neurodegenerative diseases of children
- Neural excitability: synaptic transmission
- Mitochondrial disorders
- Human brain development
- Functional brain imaging
- Final common pathways shared by diseases of neural development
- Complex, rare and undiagnosed diseases