Neurology & Neurotherapeutics - NE Neuro Pediatrics Section

Research Output 1995 2019

2019
2 Citations (Scopus)

Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency

Jakkamsetti, V., Marin-Valencia, I., Ma, Q., Good, L. B., Terrill, T., Rajasekaran, K., Pichumani, K., Khemtong, C., Hooshyar, M. A., Sundarrajan, C., Patel, M. S., Bachoo, R., Malloy, C. R. & Pascual, J. M., Jan 1 2019, In : Science Translational Medicine. 11, 480, aan0457.

Research output: Contribution to journalArticle

Pyruvate Dehydrogenase Complex Deficiency Disease
Citric Acid Cycle
Brain
Glutamic Acid
Pyruvic Acid
1 Citation (Scopus)

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, L. G., Faubert, B., Vu, H. S., Jiang, L., Ko, B., Morales, N. M., Pei, J., Dias do Vale, G., Rakheja, D., Grishin, N. V., McDonald, J. G., Gotway, G. K. & 3 others, McNutt, M. C., Pascual, J. M. & DeBerardinis, R. J., Apr 30 2019, In : Cell Reports. 27, 5, p. 1376-1386.e6

Research output: Contribution to journalArticle

Open Access
Functional assessment
Inborn Errors Metabolism
Metabolomics
Genomics
Metabolism
3 Citations (Scopus)

Legal and ethical implications of defining an optimum means of achieving unconsciousness in assisted dying

Sinmyee, S., Pandit, V. J., Pascual, J. M., Dahan, A., Heidegger, T., Kreienbühl, G., Lubarsky, D. A. & Pandit, J. J., May 1 2019, In : Anaesthesia. 74, 5, p. 630-637 8 p.

Research output: Contribution to journalArticle

Open Access
Unconsciousness
Capital Punishment
Intraoperative Awareness
General Anesthetics
Helium
2018
2 Citations (Scopus)

Author Correction: Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice

Stoodley, C. J., D’Mello, A. M., Ellegood, J., Jakkamsetti, V., Liu, P., Nebel, M. B., Gibson, J. M., Kelly, E., Meng, F., Cano, C. A., Pascual, J. M., Mostofsky, S. H., Lerch, J. P. & Tsai, P. T., Mar 16 2018, (Accepted/In press) In : Nature Neuroscience. 1 p.

Research output: Contribution to journalArticle

Autistic Disorder
8 Citations (Scopus)

Indications and methodology for video-electroencephalographic studies in the epilepsy monitoring unit

Shih, J. J., Fountain, N. B., Herman, S. T., Bagic, A., Lado, F., Arnold, S., Zupanc, M. L., Riker, E. & Labiner, D. M., Jan 1 2018, In : Epilepsia. 59, 1, p. 27-36 10 p.

Research output: Contribution to journalReview article

Epilepsy
Seizures
Electroencephalography
Hospital Administrators
Insurance Carriers
12 Citations (Scopus)

Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs

Meyer, K., Kirchner, M., Uyar, B., Cheng, J. Y., Russo, G., Hernandez-Miranda, L. R., Szymborska, A., Zauber, H., Rudolph, I. M., Willnow, T. E., Akalin, A., Haucke, V., Gerhardt, H., Birchmeier, C., Kühn, R., Krauss, M., Diecke, S., Pascual, J. M. & Selbach, M., Sep 20 2018, In : Cell. 175, 1, p. 239-253.e17

Research output: Contribution to journalArticle

Clathrin
Mutation
Proteins
Missense Mutation
Glucose Transporter Type 1
4 Citations (Scopus)

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. M., Mar 1 2018, In : Communications in Nonlinear Science and Numerical Simulation. 56, p. 330-343 14 p.

Research output: Contribution to journalArticle

Epilepsy
Electroencephalography
Plasticity
Modeling
Process Modeling
2017
6 Citations (Scopus)

Age-dependent changes of cerebral copper metabolism in Atp7b−/− knockout mouse model of Wilson’s disease by [64Cu]CuCl2-PET/CT

Xie, F., Xi, Y., Pascual, J. M., Muzik, O. & Peng, F., Jan 27 2017, (Accepted/In press) In : Metabolic Brain Disease. p. 1-10 10 p.

Research output: Contribution to journalArticle

Hepatolenticular Degeneration
Positron emission tomography
Metabolism
Knockout Mice
Tomography
43 Citations (Scopus)

Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice

Stoodley, C. J., D'Mello, A. M., Ellegood, J., Jakkamsetti, V., Liu, P., Nebel, M. B., Gibson, J. M., Kelly, E., Meng, F., Cano, C. A., Pascual, J. M., Mostofsky, S. H., Lerch, J. P. & Tsai, P. T., Dec 1 2017, In : Nature Neuroscience. 20, 12, p. 1744-1751 8 p.

Research output: Contribution to journalArticle

Autistic Disorder
Purkinje Cells
Parietal Lobe
Autism Spectrum Disorder
Social Behavior
5 Citations (Scopus)

Clinical aspects of glucose transporter type 1 deficiency: Information from a global registry

Hao, J., Kelly, D. I., Su, J. & Pascual, J. M., Jun 1 2017, In : JAMA Neurology. 74, 6, p. 727-732 6 p.

Research output: Contribution to journalArticle

Glucose Transporter Type 1
Registries
Ketogenic Diet
Theoretical Models
Carbohydrate-Restricted Diet

Frontotemporal Degeneration in a Child

Terrill, T. & Pascual, J. M., Jul 1 2017, In : Pediatric Neurology. 72, p. 62-64 3 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Temporal Lobe
Frontal Lobe
Brain Diseases
Positron-Emission Tomography
2 Citations (Scopus)

Intramyocellular lipid excess in the mitochondrial disorder MELAS

Golla, S., Ren, J., Malloy, C. R. & Pascual, J. M., Jul 1 2017, In : Neurology: Genetics. 3, 3, e160.

Research output: Contribution to journalArticle

MELAS Syndrome
Mitochondrial Diseases
Lipids
Magnetic Resonance Spectroscopy
Mitochondrial DNA
8 Citations (Scopus)

Oxidation of [U-13C]glucose in the human brain at 7T under steady state conditions

Cheshkov, S., Dimitrov, I. E., Jakkamsetti, V., Good, L., Kelly, D., Rajasekaran, K., Deberardinis, R. J., Pascual, J. M., Sherry, A. D. & Malloy, C. R., 2017, (Accepted/In press) In : Magnetic Resonance in Medicine.

Research output: Contribution to journalArticle

Glucose
Citric Acid Cycle
Magnets
Brain
Energy Metabolism
2016
35 Citations (Scopus)

Deregulation of mitochondrial F1FO-ATP synthase via OSCP in Alzheimer's disease

Beck, S. J., Guo, L., Phensy, A., Tian, J., Wang, L., Tandon, N., Gauba, E., Lu, L., Pascual, J. M., Kroener, S. & Du, H., May 6 2016, In : Nature Communications. 7, 11483.

Research output: Contribution to journalArticle

Mitochondrial Proton-Translocating ATPases
Deregulation
adenosine triphosphate
Alzheimer Disease
proteins
2 Citations (Scopus)

Genetic gradients in epileptic brain malformations

Pascual, J. M., Jul 1 2016, In : JAMA Neurology. 73, 7, p. 787 1 p.

Research output: Contribution to journalEditorial

Brain
13 Citations (Scopus)

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

Chen, C. A., Bosch, D. G. M., Cho, M. T., Rosenfeld, J. A., Shinawi, M., Lewis, R. A., Mann, J., Jayakar, P., Payne, K., Walsh, L., Moss, T., Schreiber, A., Schoonveld, C., Monaghan, K. G., Elmslie, F., Douglas, G., Boonstra, F. N., Millan, F., Cremers, F. P. M., McKnight, D. & 15 others, Richard, G., Juusola, J., Kendall, F., Ramsey, K., Anyane-Yeboa, K., Malkin, E., Chung, W. K., Niyazov, D., Pascual, J. M., Walkiewicz, M., Veluchamy, V., Li, C., Hisama, F. M., De Vries, B. B. A. & Schaaf, C., Nov 1 2016, In : Genetics in Medicine. 18, 11, p. 1143-1150 8 p.

Research output: Contribution to journalArticle

Optic Atrophy
Genetic Association Studies
Phenotype
Muscle Hypotonia
Initiator Codon

The life, times and work of Charles R. Roe, M.D

Pascual, J. M., 2016, (Accepted/In press) In : Neuroscience Letters.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Understanding Atomic Interactions to Achieve Well-Being

Pascual, J. M., Jun 1 2016, In : JAMA Neurology. 73, 6, p. 626-627 2 p.

Research output: Contribution to journalEditorial

2015
12 Citations (Scopus)

Acute effect of glucose on cerebral blood flow, blood oxygenation, and oxidative metabolism

Xu, F., Liu, P., Pascual, J. M., Xiao, G., Huang, H. & Lu, H., Feb 1 2015, In : Human Brain Mapping. 36, 2, p. 707-716 10 p.

Research output: Contribution to journalArticle

Cerebrovascular Circulation
Glucose
Eating
Caloric Restriction
Oxygen
8 Citations (Scopus)

Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease

Pascual, J. M. & Ronen, G. M., Nov 1 2015, In : Pediatric Neurology. 53, 5, p. 379-393 15 p.

Research output: Contribution to journalArticle

Facilitative Glucose Transport Proteins
Rare Diseases
Ketogenic Diet
Phenotype
Genetic Association Studies

IKBKG mutation with incontinentia pigmenti and ring-enhancing encephalopathy

Eksambe, D., Agim, N., Uddin, N., Gotway, G. & Pascual, J. M., Dec 1 2015, In : JAMA Neurology. 72, 12, p. 1533-1535 3 p.

Research output: Contribution to journalArticle

I-kappa B Kinase
Incontinentia Pigmenti
Brain Diseases
Aspartate Aminotransferases
Alanine Transaminase
2 Citations (Scopus)

Type II Cortical Dysplasia in Dominant Frontal Lobe Presenting as Gelastic Epilepsy

Dubey, D., Thodeson, D., Dowling, M., Sirsi, D., Arnold, S. & Said, R., Jul 1 2015, In : Pediatric Neurology. 53, 1, p. 97-98 2 p., 8613.

Research output: Contribution to journalArticle

Group II Malformations of Cortical Development
Malformations of Cortical Development
Partial Epilepsy
Frontal Lobe
Single-Photon Emission-Computed Tomography
2014
13 Citations (Scopus)

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., 2014, In : Pediatric Neurology. 50, 4, p. 377-379 3 p.

Research output: Contribution to journalArticle

Ketogenic Diet
Mutation
Genes
Facilitative Glucose Transport Proteins
Differential Diagnosis
4 Citations (Scopus)

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. M., Weakley, D. R., Gong, X., Pascual, J. M. & Mootha, V., Mar 28 2014, In : Molecular Vision. 20, p. 368-375 8 p.

Research output: Contribution to journalArticle

Mutation
Magnetic Resonance Imaging
Trochlear Nerve
Corneal Perforation
Olfactory Nerve
30 Citations (Scopus)

A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome

Lee, E. E., Ma, J., Sacharidou, A., Mi, W., Salato, V. K., Nguyen, N., Jiang, Y., Pascual, J. M., North, P. E., Shaul, P. W., Mettlen, M. & Wang, R. C., Nov 24 2014, (Accepted/In press) In : Molecular Cell.

Research output: Contribution to journalArticle

Protein Kinase C
Phosphorylation
Glucose
Acetates
Glucose Transporter Type 1
27 Citations (Scopus)

Diagnostic yield of clinical next-generation sequencing panels for epilepsy

Wang, J., Gotway, G., Pascual, J. M. & Park, J. Y., 2014, In : JAMA Neurology. 71, 5, p. 650-651 2 p.

Research output: Contribution to journalArticle

High-Throughput Nucleotide Sequencing
Epilepsy
Retrospective Studies
Sequencing
Diagnostics
1 Citation (Scopus)

Glucose Transporter Type I Deficiency and Other Glucose Flux Disorders

Pascual, J. M., Wang, D. & De Vivo, D. C., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 649-662 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Facilitative Glucose Transport Proteins
Glucose
Ketogenic Diet
Chorea
Dysarthria

Glut1 Deficiency (G1D)

Pascual, J. M., Oct 29 2014, Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., p. 785-795 11 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Facilitative Glucose Transport Proteins
Glucose
Chorea
Dysarthria
Microcephaly

Kernicterus

Pascual, J. M., Jan 1 2014, Encyclopedia of the Neurological Sciences. Elsevier Inc., p. 801-804 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Kernicterus
Gliosis
Basal Ganglia
Bilirubin
Developed Countries
1 Citation (Scopus)

Menkes Disease and Other ATP7A Disorders

Pascual, J. M. & Menkes, J. H., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 455-462 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Menkes Kinky Hair Syndrome
Copper
Hair
Cytochrome-c Oxidase Deficiency
Subdural Effusion
2 Citations (Scopus)

Preface to the Fifth Edition

Rosenberg, R. N. & Pascual, J. M., Nov 13 2014, In : Unknown Journal. p. xxxiii-xxxiv

Research output: Contribution to journalArticle

1 Citation (Scopus)

Pyruvate Dehydrogenase, Pyruvate Carboxylase, Krebs Cycle and Mitochondrial Transport Disorders

Tondo, M., Marin-Valencia, I., Ma, Q. & Pascual, J. M., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 291-297 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Pyruvate Carboxylase
Mitochondrial Diseases
Citric Acid Cycle
Pyruvic Acid
Oxidoreductases
2 Citations (Scopus)
Erythema Infectiosum
Psychiatry
Molecular Biology
Nervous System Diseases
Genetic Counseling
42 Citations (Scopus)

Triheptanoin for glucose transporter type i deficiency (G1D): Modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement

Pascual, J. M., Liu, P., Mao, D., Kelly, D. I., Hernandez, A., Sheng, M., Good, L. B., Ma, Q., Marin-Valencia, I., Zhang, X., Park, J. Y., Hynan, L. S., Stavinoha, P., Roe, C. R. & Lu, H., Oct 1 2014, In : JAMA Neurology. 71, 10, p. 1255-1265 11 p.

Research output: Contribution to journalArticle

Facilitative Glucose Transport Proteins
Dietary Supplements
Ketogenic Diet
Citric Acid Cycle
Brain Diseases

Wolman Disease

Marin-Valencia, I. & Pascual, J. M., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 403-409 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Wolman Disease
Cholesterol Ester Storage Disease
Sterol Esterase
Liver Failure
Steatorrhea
2013
40 Citations (Scopus)

Different timescales for the neural coding of consonant and vowel sounds

Perez, C. A., Engineer, C. T., Jakkamsetti, V., Carraway, R. S., Perry, M. S. & Kilgard, M. P., Feb 18 2013, In : Cerebral Cortex. 23, 3, p. 670-683 14 p.

Research output: Contribution to journalArticle

Speech Disorders
Inferior Colliculi
Auditory Cortex
Phonetics
Neurons
49 Citations (Scopus)

Experience-Induced Arc/Arg3.1 Primes CA1 Pyramidal Neurons for Metabotropic Glutamate Receptor-Dependent Long-Term Synaptic Depression

Jakkamsetti, V., Tsai, N. P., Gross, C., Molinaro, G., Collins, K. A., Nicoletti, F., Wang, K., Osten, P., Bassell, G. J., Gibson, J. R. & Huber, K., Oct 2 2013, In : Neuron. 80, 1, p. 72-79 8 p.

Research output: Contribution to journalArticle

Long-Term Synaptic Depression
Metabotropic Glutamate Receptors
Pyramidal Cells
Neurons
Neuronal Plasticity
44 Citations (Scopus)

Heptanoate as a neural fuel: Energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain

Marin-Valencia, I., Good, L. B., Ma, Q., Malloy, C. R. & Pascual, J. M., Feb 2013, In : Journal of Cerebral Blood Flow and Metabolism. 33, 2, p. 175-182 8 p.

Research output: Contribution to journalArticle

Heptanoates
Facilitative Glucose Transport Proteins
Acetyl Coenzyme A
Neurotransmitter Agents
Brain

Lipofuscinosis neuronal ceroidea infantil tardía: Reporte de un caso

Translated title of the contribution: Late infantile neuronal ceroid lipofuscinosis: A case reportAndrea, A. B., Guadalupe, J. T., Fabiola, O. P., Susan, A., Said, R. & David, I. G., Jan 2013, In : Revista Mexicana de Neurociencia. 14, 1, p. 44-49 6 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Progressive Myoclonic Epilepsy
Ataxia
Neuroimaging
Electron Microscopy
15 Citations (Scopus)

Modeling of brain metabolism and pyruvate compartmentation using 13 C NMR in vivo: Caution required

Jeffrey, F. M., Marin-Valencia, I., Good, L. B., Shestov, A. A., Henry, P. G., Pascual, J. M. & Malloy, C. R., Aug 2013, In : Journal of Cerebral Blood Flow and Metabolism. 33, 8, p. 1160-1167 8 p.

Research output: Contribution to journalArticle

Pyruvic Acid
Neuroglia
Brain
Neurons
Glucose
23 Citations (Scopus)

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, S. W., Enns, G. M., Boué, D. R., Wong, B. L., Mendell, J. R., Perry, D. A., Sahenk, Z., Craigen, W. J., Alcala, F. J. C., Pascual, J. M., Melancon, S., Zhang, V. W., Scaglia, F. & Wong, L. J. C., Sep 2013, In : Molecular Genetics and Metabolism. 110, 1-2, p. 153-161 9 p.

Research output: Contribution to journalArticle

Thymidine Kinase
Mitochondrial DNA
Genes
Mutation
Muscle
17 Citations (Scopus)

Prevalence and spot urine risk factors for renal stones in children taking topiramate

Corbin Bush, N., Twombley, K., Ahn, J., Oliveira, C., Arnold, S., Maalouf, N. M. & Sakhaee, K., Dec 2013, In : Journal of Pediatric Urology. 9, 6 PART A, p. 884-889 6 p.

Research output: Contribution to journalArticle

Urine
Kidney
Hypercalciuria
Creatinine
topiramate
9 Citations (Scopus)

Systemic metabolic abnormalities in adult-onset acid maltase deficiency beyond muscle glycogen accumulation

Pascual, J. M. & Roe, C. R., Jun 2013, In : JAMA Neurology. 70, 6, p. 756-763 8 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Glycogen
Methylation
Muscles
Carrier Proteins
5 Citations (Scopus)

Valproic acid enhances glucose transport in the cultured brain astrocytes of glucose transporter 1 heterozygous mice

Kim, S. K., Yang, H., Pascual, J. M. & De Vivo, D. C., Jan 2013, In : Journal of Child Neurology. 28, 1, p. 70-76 7 p.

Research output: Contribution to journalArticle

Facilitative Glucose Transport Proteins
Valproic Acid
Astrocytes
Glucose
Brain
2012
390 Citations (Scopus)
Magnetic resonance spectroscopy
Glioma
Magnetic Resonance Spectroscopy
Tumors
Mutation
244 Citations (Scopus)

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, X. L., Rajagopalan, K. N., Maddie, M., Vemireddy, V., Zhao, Z., Cai, L., Good, L., Tu, B. P., Hatanpaa, K. J., Mickey, B. E., Matés, J. M., Pascual, J. M., Maher, E. A., Malloy, C. R., DeBerardinis, R. J. & 1 others, Bachoo, R. M., Jun 6 2012, In : Cell Metabolism. 15, 6, p. 827-837 11 p.

Research output: Contribution to journalArticle

Glioblastoma
Glucose
Brain
Neoplasms
Food
1 Citation (Scopus)

Ataxia and weakness in a young woman

Beh, S. C., Nations, S., Pascual, J. M. & Vernino, S., Jul 2012, In : Archives of Neurology. 69, 7, p. 924-927 4 p.

Research output: Contribution to journalArticle

Ataxia
Neurologic Examination
Motor Neurons
Nervous System Diseases
Neuroimaging
8 Citations (Scopus)

Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet 13C NMR of the adult mouse brain

Marin-Valencia, I., Good, L. B., Ma, Q., Malloy, C. R., Patel, M. S. & Pascual, J. M., Dec 2012, In : Neurochemistry International. 61, 7, p. 1036-1043 8 p.

Research output: Contribution to journalArticle

Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex
Brain
Acetates
Glutamine

Disorders of Muscle Excitability

Pascual, J. M., 2012, Basic Neurochemistry. Elsevier, p. 783-800 18 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Muscular Diseases
87 Citations (Scopus)

Effect of hypoxia and hyperoxia on cerebral blood flow, blood oxygenation, and oxidative metabolism

Xu, F., Liu, P., Pascual, J. M., Xiao, G. & Lu, H., Oct 2012, In : Journal of Cerebral Blood Flow and Metabolism. 32, 10, p. 1909-1918 10 p.

Research output: Contribution to journalArticle

Cerebrovascular Circulation
Hyperoxia
Brain
Altitude Sickness
Brain Ischemia