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Department of Pediatrics

Child Neurology and Neurodevelopmental Disabilities Resident Research

Master
Content

The following is a listing of research presentations and posters from our program residents. 

Daniel Calame

Daniel Calame, Isabella Hermann, Lisa Emrick, Timothy Lotze. “Genetic mimics of autoimmune encephalitis.” Presented at: Child Neurology Society Meeting 2019. Charlotte, NC.

Daniel Calame, William Lapin, Monica Marcus, Lisa Nassif. “Degos’ disease: the hint is in the skin.” Presented at American Academy of Neurology Conference 2019. Philadelphia, PN.

Daniel Calame Mered Parnes. “Episodic status epilepticus with hemiplegia and involuntary movements associated with novel ATP1A2 mutation.” Presented at American Academy of Neurology Conference 2019. Philadelphia, PN.

Daniel Calame, Farida Abida. “Positive response to nusinersen in a patient with motor neuron disease and 1 copy of SMN1.” Presented at Virtual American Academy of Neurology Conference 2020.

Daniel Calame, Marwan Shinawi, Julie Cohen, Richard Person, Aida Telegrafi, Timothy Lotze, Sho Yano, Debra Regier. “Atypical phenotypes caused by the ATP1A3 variant p.P775L.” Poster for American Academy of Neurology Conference 2019.

Daniel Calame Amanda Rogers, Katherine Helbig, Cara Skraban, Ingo Helbig, Mary Bertrand, Lisa Emrick, Davut Pehlivan, James R. Lupski, Toni Pearson, Markey McNutt. “Biallelic variants in CSTB cause a developmental and epileptic encephalopathy with dyskinesia.”  Child Neurology Society Meeting 2020.

Daniel Calame, Hitha Amin, Irene Patniyot, Mered Parnes. “Episodic hemiplegia secondary to channelopathies: clinical spectrum and genotype-phenotype correlations.” Child Neurology Society Meeting 2020.

Daniel Calame, Dana Marafi, Jawid Fatih, Timothy Lotze, Pedro Mancias, Suur Biliciler, Farida Abid, Kazim Sheikh, Osman Yesilbas, Haktan Erdem, Beyhan Tuysuz, Jennifer Posey, Davut Pehlivan, James Lupski. “Lessons learned from applying exome sequencing to a neuromuscular disease cohort: Novel candidate genes, oligogenic inheritance pattern and phenotypic expansion.” Poster. The 62nd McKusick Short Course, Jackson Laboratory, 2020.

Isabella Herman

Herman, I, Riviello, JJ, Erklauer, J, Ontaneda-Perez, A. Establishment and outcomes of a continuous EEG monitoring protocol in ECMO patients in the pediatric ICU at Texas Children’s Hospital. Child Neurology Society Annual Meeting, 2020. Accepted.

Herman, I, Lopez, MA, Marafi, D, Pehlivan, D, Calame, D, Abid, F, Lotze, TE. 2020. Clinical exome sequencing as first tier genetic testing in the diagnosis of pediatric neuromuscular disease. Child Neurology Society Annual Meeting. Accepted.

Herman, I, Sully, K. Medically intractable myoclonic epilepsy, intellectual disability, and dysmorphism in a teenage girl caused by a novel variant in NEXMIF. Child Neurology Society Annual Meeting, 2020. Accepted.

Lai, Y, Herman, I, Erklauer, J, Chan, SW, Riviello, JJ. Pediatric neurointensive care unit boosts adherence to continuous EEG best care practices. Society for Critical Care Medicine, 2020.

Herman, I Punetha, J, Karaca, E, Gezdirici, A, Lamont, RE, Pehlivan, D, Marafi, DN, Appendino, JP, Hunter JV, Coban-Akdemir, Fatih, JW, Jhangiani, SN, Gibbs, RA, Innes, A, Posey, JE, Lupski, JR. Novel homozygous variants in CACNA2D2 in patients with epileptic encephalopathy and cerebellar atrophy. American Society for Human Genetics Annual Meeting, 2019.

Herman, I Herman, I, Diaz-Medina, G, Potocki, L., Pehlivan, D. Hyperekplexia and apnea of infancy as the initial presentation of a novel variant in SCN8A. Child Neurology Society Annual Meeting, 2019.

Herman, I, Lim, J, Kayyal, S, Erklauer, J. Early epileptic encephalopathy, hypotonia, and liver dysfunction caused by D-bifunctional protein deficiency. Child Neurology Society Annual Meeting, 2019.

Herman, I, Handoko, M, Emrick, L. Expanded newborn screening leads to early diagnosis and treatment of children with Cobalamin C disease and aids in identifying and treating presymptomatic affected family members. American Academy of Neurology Annual Meeting, Philadelphia, PA, 2019

Alex Sandweiss

Alexander J. Sandweiss, Timothy Erickson, Kristy O. Murray, Eyal Muscal. Clinical differences between seronegative and seropositive (CSF+) NMDA receptor autoimmune encephalitis. Child Neurology Society Annual Meeting. San Diego, CA. October 2020.

Alexander J. Sandweiss, David Farrier, Brittnie Bartlett, Farida Abid. The role of growth hormone in a pediatric case of transient ischemic attack. Child Neurology Society Annual Meeting. October 2020. San Diego, CA.

Alexander J. Sandweiss, Eyal Muscal, Timothy Lotze. Case Report: The Use of Tocilizumab in Down Syndrome Disintegrative Disorder. American Academy of Neurology Annual Conference. Toronto, Canada. April 25, 2020.

Alexander J. Sandweiss: “CRISPRing out opiate reward: in vivo genetic and pharmacological manipulation of the neurokinin system.” Invited Speaker at “The CRISPR-Cas9 Revolution in Pharmacology” Symposium. ASPET Annual Meeting at Experimental Biology 2017. Chicago, IL. April 24, 2017.

Kristin Fisher

K. Fisher D.O., N. Skukla M.D. “Presence of P/Q Voltage-gated Calcium Channel (VGCC) Antibodies in Pediatric Autoimmune Encephalitis,” Poster accepted at Joint Child Neurology Society/International Chile Neurology Congress Meeting, 2020.

K. Fisher D.O., A. Balasa M.D., N. Shukla M.D., T. Lotze M.D. “Increased Likelihood of Relapse in Pediatric Anti-MOG ADEM and Optic Neuritis vs. Seronegative ADEM and Optic Neuritis Patients,” Poster accepted at Joint Child Neurology Society/International Chile Neurology Congress Meeting, 2020.

K. Fisher D.O., K. Davis PhD, M. Martinez, N. Shukla M.D., K. Evankovich PhD. “Presentation and Long-term Neurologic and Neurodevelopmental Profiles in Pediatric Patients with Febrile InfectionRelated Epilepsy Syndrome (FIRES): A Single Institution Review,” Poster accepted at Joint Child Neurology Society/International Chile Neurology Congress Meeting, 2020.

K. Davis PhD, K. Fisher D.O., M. Martinez, K. Evankovich PhD. “Febrile Infection-Related Epilepsy Syndrome (FIRES) Identification, Treatment, Outcomes, and Future Directions: A Single Institution Review,” Invited speaker at International Pediatric Brain Injury Society Meeting 2020.

K. Fisher D.O., N. Skukla M.D. “Presence of P/Q Voltage-gated Calcium Channel (VGCC) Antibodies in Pediatric Autoimmune Encephalitis,” Poster accepted at American Academy of Neurology Meeting, 2020.

K. Fisher D.O., A. Balasa M.D., N. Shukla M.D., T. Lotze M.D. “Increased Likelihood of Relapse in Pediatric Anti-MOG ADEM and Optic Neuritis vs. Seronegative ADEM and Optic Neuritis Patients,” Poster accepted at American Academy of Neurology Meeting, 2020.

K. Fisher D.O., K. Davis PhD, M. Martinez, N. Shukla M.D., K. Evankovich PhD. “Presentation and Long-term Neurologic and Neurodevelopmental Profiles in Pediatric Patients with Febrile Infection- Kristen Fisher 2 Related Epilepsy Syndrome (FIRES): A Single Institution Review,” Poster to be presented at American Academy of Neurology Meeting, April 25-May1 2020, Toronto Canada.

K. Fisher D.O., A. Balasa M.D., N. Shukla M.D., T. Lotze M.D. “Increased Likelihood of Relapse in Pediatric Anti-MOG ADEM and Optic Neuritis vs. Seronegative ADEM and Optic Neuritis Patients,” Poster presented at Americas Committee for Treatment and Research in Multiple Sclerosis, February 27-29 2020, West Palm Beach FL. Selected for Young Investigator Educational Grant Award.

A. Balasa M.D., K. Fisher D.O., T. Lotze M.D. “Trends in the Use of Disease Modifying Treatments in Pediatric Multiple Sclerosis Over the Past Seven Years: A Single Center Retrospective Study,” Poster presented at Americas Committee for Treatment and Research in Multiple Sclerosis, February 27-29 2020, West Palm Beach FL. Selected for Young Investigator Educational Grant Award.

K. Fisher D.O., A. Jimenez Gomez M.D., V. Shah M.D. PhD. “Baseline characteristics of individuals with Cortical Visual Impairment of pediatric onset: an interim analysis of results of a longitudinal study,” Poster presented at Child Neurology Society Annual Meeting, October 23-26 2019, Charlotte NC. Selected for Guided Poster Tour Oral Presentation

K. Fisher D.O., N. Shukla M.D., T. Lotze M.D. “Pediatric Acute Flaccid Myelitis (AFM): Single Institution Experience During 2018 Season,” Poster presented at Child Neurology Society Annual Meeting, October 23-26 2019, Charlotte NC.

K. Fisher D.O., T. Lotze M.D. “Rituximab as Immunomodulatory Agent in Pre-adolescent Pediatric Onset Isaacs’ Syndrome: Case Report of Favorable Longitudinal Response,” Poster presented at Child Neurology Society Annual Meeting, October 23-26 2019, Charlotte NC.

J. A. Rosenfeld M.S. C.G.C., A. F. Wadley MMSc L.C.G.C., W. J. Craigen M.D., K. Fisher D.O., L. C. Burrage M.D., D. R. Murdock M.D., Undiagnosed Diseases Network, B. Lee M.D., A. C. Tsai M.D., Lisa Emrick M.D., “De novo ZBTB47 missense variants in two individuals with generalized epilepsy, developmental delays, and movement abnormalities,” Poster presented at American Society of Human Genetics Annual Meeting, October 15-19 2019, Houston TX.

K. Fisher D.O., A. Jimenez Gomez M.D., V. Shah M.D. PhD, “Baseline characteristics of individuals with Cortical Visual Impairment of pediatric onset: an interim analysis of results of a longitudinal study,” Poster presented at American Academy of Cerebral Palsy and Developmental Medicine Annual Meeting, September 18-21 2019, Anaheim CA.

K. Fisher D.O., A. Jimenez Gomez M.D., V. Shah M.D. PhD, “Baseline characteristics of individuals with Cortical Visual Impairment of pediatric onset: an interim analysis of results of a longitudinal study,” Presented at Southern Pediatric Neurology Society Annual Meeting, March 30 2019, New Orleans LA.

Aishwarya Pareek

South Indian Classical Music, An Artistic Science Conference: Threads Conference, Session on Arts. Boston, MA. 2019

A stroke that didn’t quite fit the mold.  American Academy of Pediatrics National Conference, Section on Critical Care Annual Meeting.  New Orleans, LA. 2019.

A Myel-In, A Long Way to Go.  North American Neuro-Ophthalmology Society, Frank B. Walsh Meeting. Amelia Island, FL 2019.

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Resident Research Presentations