Search Results - "Vawter‐Lee, Marissa"

Alobar holoprosencephaly: Exploring mothers' perspectives on prenatal decision‐making and prognostication by Elfarawi, Hunaydah, Tolusso, Leandra, McGowan, Michelle L., Cortezzo, DonnaMaria, Vawter‐Lee, Marissa

“…Objectives Parents receiving a prenatal diagnosis of alobar holoprosencephaly (HPE) often experience uncertainty regarding the pregnancy prognosis. There is…”
Get full text

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes by Abell, Katherine, Tolusso, Leandra, Smith, Nicki, Hopkin, Robert, Vawter‐Lee, Marissa, Habli, Mounira, Riddle, Stefanie, Calvo‐Garcia, Maria A., Guan, Qiaoning, Bierbrauer, Karin, Hwa, Vivian, Saal, Howard M.

“…Proteus syndrome is a mosaic genetic overgrowth disorder caused by a postzygotic, mosaic activating mutation in AKT1. Rare prenatal presentations include…”
Get full text

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms by Chung, Hyung-lok, Wangler, Michael F., Marcogliese, Paul C., Jo, Juyeon, Ravenscroft, Thomas A., Zuo, Zhongyuan, Duraine, Lita, Sadeghzadeh, Sina, Li-Kroeger, David, Schmidt, Robert E., Pestronk, Alan, Rosenfeld, Jill A., Burrage, Lindsay, Herndon, Mitchell J., Chen, Shan, Shillington, Amelle, Vawter-Lee, Marissa, Hopkin, Robert, Rodriguez-Smith, Jackeline, Henrickson, Michael, Lee, Brendan, Moser, Ann B., Jones, Richard O., Watkins, Paul, Yoo, Taekyeong, Mar, Soe, Choi, Murim, Bucelli, Robert C., Yamamoto, Shinya, Lee, Hyun Kyoung, Prada, Carlos E., Chae, Jong-Hee, Vogel, Tiphanie P., Bellen, Hugo J.

“…ACOX1 (acyl-CoA oxidase 1) encodes the first and rate-limiting enzyme of the very-long-chain fatty acid (VLCFA) β-oxidation pathway in peroxisomes and leads to…”
Get full text

Outcome of Isolated Absent Septum Pellucidum Diagnosed by Fetal Magnetic Resonance Imaging (MRI) Scan by Vawter-Lee, Marissa M., Wasserman, Halley, Thomas, Cameron W., Nichols, Beatrice, Nagaraj, Usha D., Schapiro, Mark, Venkatesan, Charu

“…Improved fetal imaging has resulted in increased diagnosis of isolated absent septum pellucidum without other intracranial abnormalities. There is little…”
Get full text

CNTNAP1-Related Congenital Hypomyelinating Neuropathy by Lesmana, Harry, Vawter Lee, Marissa, Hosseini, Seyed Ali, Burrow, T. Andrew, Hallinan, Barbara, Bove, Kevin, Schapiro, Mark, Hopkin, Robert J.

“…Congenital hypomyelinating neuropathy is a rare form of hereditary peripheral neuropathy characterized by nonprogressive weakness, areflexia, hypotonia,…”
Get full text

Muslim perspectives on palliative care in perinatal and neonatal patients: a mini-review by Shoaib, Abdullah B, Vawter-Lee, Marissa, Venkatesan, Charu, Soliman, Ayman F

“…Muslims comprise nearly a quarter of the worldwide population, with significant populations in the United States, Canada, and Europe. As clinicians, it is…”
Get full text

Role of palliative care in fetal neurological consultations: Guiding through uncertainty and hope by Cortezzo, DonnaMaria E, Vawter-Lee, Marissa, Shoaib, Abdullah, Venkatesan, Charu

“…Fetal neurology is a rapidly evolving and expanding field. Discussions about diagnosis, prognosis, treatment options, and goals of care often begin in the…”
Get full text

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center by Baker, Elizabeth K., Ulm, Elizabeth A., Belonis, Alyce, Brightman, Diana S., Hallinan, Barbara E., Leslie, Nancy D., Miethke, Alexander G., Vawter-Lee, Marissa, Wu, Yaning, Pena, Loren D. M.

“…Exome sequencing (ES) became clinically available in 2011 and promised an agnostic, unbiased next-generation sequencing (NGS) platform for patients with…”
Get full text

Clinical Reasoning: A neonate with micrognathia and hypotonia by Vawter-Lee, Marissa M, Seals, Shannon S, Thomas, Cameron W, Venkatesan, Charu

“…A female infant was delivered via cesarean section at 39 weeks' gestation to a 40-year-old mother. Pregnancy was notable for normal fetal movement and amniotic…”
Get full text

Teaching Video NeuroImages: Ictal vomiting in a child by Aungaroon, Gewalin, Vawter-Lee, Marissa

Get full text

Teaching Video NeuroImage: Neonate With Complex Movement Disorder and Seizures by Grande, Krista, Wu, Helen, Vawter-Lee, Marissa, Schapiro, Mark

Get full text

Teaching Video NeuroImage: Neonate With Complex Movement Disorder and Seizures by Grande, Krista, Wu, Helen, Vawter-Lee, Marissa, Schapiro, Mark

Get full text

The Increasing Global Burden of Childhood Disability: A Call for Action by Vawter-Lee, Marissa, McGann, Patrick T.

Get full text

Why genetic testing is important in patients with developmental disabilities-a unique case of progressive hypertonia and chorea: VARS2-related disorder by Strader, Shannon, Vawter-Lee, Marissa, Pena, Loren, Huxol, Heather, Harris, Corrie

Get full text

Clinical Letter: A case report of targeted therapy with sirolimus for NPRL3 epilepsy by Vawter-Lee, Marissa, Franz, David N., Fuller, Christine E., Greiner, Hansel M.

Get full text

Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder? by Shillington, Amelle, Lamy, Martine, Vawter-Lee, Marissa, Erickson, Craig, Saal, Howard, Comoletti, Davide, Abell, Katherine

Get full text

Topiramate Is Safe for Refractory Neonatal Seizures: A Multicenter Retrospective Cohort Study of Necrotizing Enterocolitis Risk by Vawter-Lee, Marissa, Natarajan, Niranjana, Rang, Kelly, Horn, Paul S., Pardo, Andrea C., Thomas, Cameron W.

“…A previously published, single-institution, case series suggested an association between topiramate administration in neonates and subsequent development of…”
Get full text

Lethal Pediatric Cerebral Vasculitis Triggered by Severe Acute Respiratory Syndrome Coronavirus 2 by Poisson, Kelsey E., Zygmunt, Alexander, Leino, Daniel, Fuller, Christine E., Jones, Blaise V., Haslam, David, Staat, Mary Allen, Clay, Gwendolyn, Ting, Tracy V., Wesselkamper, Kristen, Hallinan, Barbara, Standridge, Shannon, Day, Melissa E., McNeal, Monica, Stevenson, Charles B., Vawter-Lee, Marissa

“…We report the clinical, radiological, laboratory, and neuropathological findings in support of the first diagnosis of lethal, small-vessel cerebral vasculitis…”
Get full text

Acute Flaccid Myelitis: A Multidisciplinary Protocol to Optimize Diagnosis and Evaluation by Vawter-Lee, Marissa, Peariso, Katrina, Frey, Mary, Bolikal, Priya, Schaffzin, Joshua K., Schwentker, Ann, O’Brien, William T., Zamor, Ronine, Kerrey, Benjamin T.

“…Acute flaccid myelitis is an emerging neurologic disease, first described in 2014 and predominantly affecting young children. Acute flaccid myelitis cases tend…”
Get full text

Pediatric Epilepsy Readmissions: The Who, When, and Why by Vawter-Lee, Marissa, Lutley, Alexandria, Lake, Sharon W., Fledderjohn, Shirley, King, Anna, Horn, Paul S., Wesselkamper, Kristen R.

“…Prior studies have demonstrated a pediatric epilepsy readmission rate of 6% to 10% but have not described details of the readmitted patients. We report the…”
Get full text