Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase Treated With Carglumic Acid

by Jennifer Bennett BA, Christy Gilkes BSP, RPh, Karin Klassen RN, Marina Kerr BHSc, BHSc (Hon), Aneal Khan MSc, MD, FRCPC, FCCMG
Published 2020-10-01

Expansion of -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

by Nicole J. Boczek, Erica L. Macke, Jennifer Kemppainen, Eric W. Klee, Deborah L. Renaud, Ralitza H. Gavrilova
Published 2020-10-01

Epilepsy and Malaria in Children Aged 1 to 15 Years in Parakou in 2018: Case-Control Study

by Adoukonou Thierry, Agbeille Falilatou, Bokossa Covalic, Dovoedo Elodie, Agbétou Mendinatou, Adedemy Didier, Noudamadjo Alphonse, Agossou Joseph
Published 2020-10-01

A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child

by Linda Pons, Véronique Manel MD, Dorothée Ville MD, Etienne Javouhey MD, PhD, Fabienne Bordet MD
Published 2015-10-01

Autism Spectrum Disorder and Neonatal Serum Magnesium Levels in Preterm Infants

by Amanda V. Bakian PhD, Deborah A. Bilder MD, E. Kent Korgenski MS, Joshua L. Bonkowsky MD, PhD
Published 2018-09-01

Occipital Bony Abnormality and Multiple Strokes in a Pediatric Patient

by Thomas J. Blount MD, Paul D. Larsen MD, William E. Thorell MD
Published 2016-10-01

Drug-Drug Interactions Between Cannabidiol and Lithium

by Rani K. Singh MD, Brittany Dillon DNP, David A. Tatum DO, Katherine C. Van Poppel MD, Daniel J. Bonthius MD, PhD
Published 2020-08-01

Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report

by Gian C. Rossi DO, Amy L. Patterson MD, Amy L. McGregor MD, James W. Wheless MD
Published 2019-09-01

Classifying Hypomyelination: A Critical (White) Matter

by Stefanie Perrier HBSc, Sara Matovic MSc, Geneviève Bernard MD, MSc, FRCPc
Published 2020-12-01

Rapidly Progressive Paraplegia in an 11-Year-Old Girl: A Case of Spinal Cord Infarction and Expected Imaging Findings

by Bryan J. Neth MD, PhD, Angela L. Hewitt MD, PhD, Wendy S. Edlund MD, Julie B. Guerin MD, Marc C. Patterson MD, Gesina F. Keating MD
Published 2020-12-01

Author’s Response to “Classifying Hypomyelination: A Critical (white) Matter” From Perrier et al.: regarding Expanded Phenotypic Definition Identifies Hundreds of Potential Causati...

by Veronica M. Urbik MS, Marilyn Schmiedel BS, Haille Soderholm BA, Joshua L. Bonkowsky MD, PhD
Published 2020-12-01

Liver Transplantation Reverses Hepatic Myelopathy in 2 Children With Hepatitis A Infection

by Roshan Koul MD, DM, FRCPCH, FAAN, Bikrant Bihari Lal MD, DM, Viniyendra Pamecha MS, FRCS, Shiv Sarin MD, DM, Seema Alam MD
Published 2021-01-01

Intensive Combination Immunotherapy and Neuroinflammation Resolution in a Child With Anti-PCA-1 (Yo) Paraneoplastic Syndrome and 2 Malignancies

by Guillermo Philipps MD, Elizabeth D. Tate MN, ARNP, Michael R. Pranzatelli MD
Published 2018-09-01

Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population

by Anaita Udwadia-Hegde MD, DCH, MRCPCH, Omkar Hajirnis MD, DNB, MRCPCH
Published 2017-01-01

Acute Postviral Encephalopathy

by Adina Achiriloaie MD, David Michelson MD, Li Lei MD, Laura Denham MD, Kerby Oberg MD, Ravi Raghavan MBBS, MD, MRCPath
Published 2016-07-01

Vein of Galen Aneurysmal Malformation in Neonates Presenting With Congestive Heart Failure

by Andjenie Madhuban MD, Freek van den Heuvel MD, PhD, Margriet van Stuijvenberg MD, PhD
Published 2016-03-01

Further Validation of the c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

by Jessica J. Y. Lee BSc, Clara D. M. van Karnebeek MD, PhD, Britt Drögemoller PhD, Casper Shyr PhD, Maja Tarailo-Graovac PhD, Patrice Eydoux PhD, Colin J. Ross PhD, Wyeth W. Wasserman PhD, Bruce Björnson MD, John K. Wu MD
Published 2016-09-01

A Case of Neonatal Seizures With an Unusual Electroclinical Pattern

by Neil Kulkarni MD, Jackson Mittlesteadt, Jorge Vidaurre MD
Published 2019-11-01

Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia

by Omar Abdel-Mannan MBBCh, Luigi D’Argenzio MD, Matthew Pitt MB BChir, Felice D’Arco MD, Sanjay Bhate MD, Yael Hacohen DPhil, Marios Kaliakatsos MD
Published 2019-06-01

Arthrogryposis Multiplex Congenita Related to Third-Trimester Basal Ganglia Ischemia

by Perrine Venot MD, Philippe Vo Van MD, Gratiella Mac Caby MD, Gauthier Loron MD, PhD, Jean Paul Bory MD, Ahmad Akhavi MD, Nathalie Bednarek MD, PhD
Published 2015-02-01