Search Results - "THIBERT, RONALD L"

Early and effective treatment of KCNQ2 encephalopathy by Pisano, Tiziana, Numis, Adam L., Heavin, Sinéad B., Weckhuysen, Sarah, Angriman, Marco, Suls, Arvid, Podesta, Barbara, Thibert, Ronald L., Shapiro, Kevin A., Guerrini, Renzo, Scheffer, Ingrid E., Marini, Carla, Cilio, Maria Roberta

“…Summary Objectives To describe the antiepileptic drug (AED) treatment of patients with early infantile epileptic encephalopathy due to KCNQ2 mutations during…”
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A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome by Frohlich, Joel, Senturk, Damla, Saravanapandian, Vidya, Golshani, Peyman, Reiter, Lawrence T, Sankar, Raman, Thibert, Ronald L, DiStefano, Charlotte, Huberty, Scott, Cook, Edwin H, Jeste, Shafali S

“…Duplications of 15q11.2-q13.1 (Dup15q syndrome) are highly penetrant for autism spectrum disorder (ASD). A distinct electrophysiological (EEG) pattern…”
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Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases by Prasad, Ankita, Grocott, Olivia, Parkin, Kimberly, Larson, Anna, Thibert, Ronald L.

“…Angelman syndrome is a neurogenetic disorder with varying clinical presentations and symptoms as the individual ages. The goal of this study was to…”
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Neurologic Manifestations of Angelman Syndrome by Thibert, Ronald L., DO, MsPH, Larson, Anna M., BA, Hsieh, David T., MD, Raby, Annabel R, Thiele, Elizabeth A., MD, PhD

“…Abstract Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the ubiquitin-protein ligase E3A enzyme. Angelman syndrome…”
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Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis by Sidorov, Michael S, Deck, Gina M, Dolatshahi, Marjan, Thibert, Ronald L, Bird, Lynne M, Chu, Catherine J, Philpot, Benjamin D

“…Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has…”
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The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature by Urraca, Nora, Cleary, Julie, Brewer, Victoria, Pivnick, Eniko K., McVicar, Kathryn, Thibert, Ronald L., Schanen, N. Carolyn, Esmer, Carmen, Lamport, Dustin, Reiter, Lawrence T.

“…Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism‐associated CNVs are duplications of chromosome 15q…”
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Angelman syndrome in adulthood by Larson, Anna M., Shinnick, Julianna E., Shaaya, Elias A., Thiele, Elizabeth A., Thibert, Ronald L.

“…Angelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further…”
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A survey of seizures and current treatments in 15q duplication syndrome by Conant, Kerry D., Finucane, Brenda, Cleary, Nicole, Martin, Ashley, Muss, Candace, Delany, Mary, Murphy, Erin K., Rabe, Olivia, Luchsinger, Kadi, Spence, Sarah J., Schanen, Carolyn, Devinsky, Orrin, Cook, Edwin H., LaSalle, Janine, Reiter, Lawrence T., Thibert, Ronald L.

“…Summary Objective Seizures are common in individuals with duplications of chromosome 15q11.2‐q13 (Dup15q). The goal of this study was to examine the phenotypes…”
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Understanding relationships between autism, intelligence, and epilepsy: a cross‐disorder approach by van EEGHEN, AGNIES M, PULSIFER, MARGARET B, MERKER, VANESSA L, NEUMEYER, ANN M, van EEGHEN, ELMER E, THIBERT, RONALD L, COLE, ANDREW J, LEIGH, FAWN A, PLOTKIN, SCOTT R, THIELE, ELIZABETH A

“…Aim  As relationships between autistic traits, epilepsy, and cognitive functioning remain poorly understood, these associations were explored in the…”
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Epilepsy in Angelman syndrome: A questionnaire‐based assessment of the natural history and current treatment options by Thibert, Ronald L., Conant, Kerry D., Braun, Eileen K., Bruno, Patricia, Said, Rana R., Nespeca, Mark P., Thiele, Elizabeth A.

“…Summary Purpose:  Angelman syndrome (AS) commonly presents with epilepsy (>80%). The goal of this study was to examine the natural history and various…”
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Hippocampal Abnormalities in Magnetic Resonance Imaging (MRI) of 15q Duplication Syndromes by Boronat, Susana, Mehan, William A., Shaaya, Elias A., Thibert, Ronald L., Caruso, Paul

“…Patients with 15q duplication syndromes, including isodicentric chromosome 15 and interstitial duplications, usually present with autism spectrum disorder,…”
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The Use of Magnetic Resonance Spectroscopy in the Evaluation of Pediatric Patients With Seizures by Rincon, Sandra P., MD, Blitstein, Marisa B.K., MD, Caruso, Paul A., MD, González, R. Gilberto, MD, PhD, Thibert, Ronald L., DO, MsPH, Ratai, Eva-Maria, PhD

“…Abstract Background The objective was to determine if it is useful to routinely add magnetic resonance spectroscopy (MRS) to magnetic resonance imaging (MRI)…”
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Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis by Sidorov, Michael S, Deck, Gina M, Dolatshahi, Marjan, Thibert, Ronald L, Bird, Lynne M, Chu, Catherine J, Philpot, Benjamin D

“…[This corrects the article DOI: 10.1186/s11689-017-9195-8.]…”
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Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment by Keute, Marius, Miller, Meghan T., Krishnan, Michelle L., Sadhwani, Anjali, Chamberlain, Stormy, Thibert, Ronald L., Tan, Wen-Hann, Bird, Lynne M., Hipp, Joerg F.

“…Angelman Syndrome (AS) is a severe neurodevelopmental disorder due to impaired expression of UBE3A in neurons. There are several genetic mechanisms that impair…”
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Teaching NeuroImage: Notched Delta and Angelman Syndrome by Nascimento, Fábio A, Thiele, Elizabeth A, Thibert, Ronald L

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Tolerability and dosing experience of intravenous levetiracetam in children and infants by Michaelides, Costas, Thibert, Ronald L, Shapiro, Michelle J, Kinirons, Peter, John, Tanya, Manchharam, Dipti, Thiele, Elizabeth A

“…Summary Objective To evaluate the use and tolerability of intravenous (IV) levetiracetam (LEV) in a pediatric cohort under 14 years of age. Methods A…”
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Reversible uncal herniation in a neonate with a large MCA infarct by Thibert, Ronald L, Burns, Joseph D, Bhadelia, Rafeeque, Takeoka, Masanori

“…Abstract Uncal herniation due to a large cerebral infarct is well-described in adults, with high rates of morbidity and mortality. This phenomenon, however,…”
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Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital by Shaaya, Elias A, Grocott, Olivia R, Laing, Olivia, Thibert, Ronald L

“…Abstract Epilepsy is a common feature of Angelman syndrome (~ 80–90%), with the most common seizure types including myoclonic, atonic, atypical absence, focal,…”
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If not Angelman, what is it? a review of Angelman-like syndromes by Tan, Wen-Hann, Bird, Lynne M., Thibert, Ronald L., Williams, Charles A.

“…Angelman syndrome (AS) is caused by a lack of expression of the maternally inherited UBE3A gene in the brain. However, about 10% of individuals with a clinical…”
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The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome by Bird, Lynne M., Ochoa-Lubinoff, Cesar, Tan, Wen-Hann, Heimer, Gali, Melmed, Raun D., Rakhit, Amit, Visootsak, Jeannie, During, Matthew J., Holcroft, Christina, Burdine, Rebecca D., Kolevzon, Alexander, Thibert, Ronald L.

“…To evaluate safety and tolerability and exploratory efficacy end points for gaboxadol (OV101) compared with placebo in individuals with Angelman syndrome (AS)…”
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