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Your search keyword '"Vanderver, A."' showing total 15 results
Start Over Author "Vanderver, A." Journal pediatric neurology
15 results on '"Vanderver, A."'

1. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Borroto, Maria Carla, Patel, Heena, Srivastava, Siddharth, Swanson, Lindsay C., Keren, Boris, Whalen, Sandra, Mignot, Cyril, Wang, Xiaodong, Chen, Qian, McLean, Scott, Littlejohn, Rebecca O., Emrick, Lisa, Attali, Ruben, Lesca, Gaetan, Acquaviva-Bourdain, Cecile, Sarret, Catherine, Seaver, Laurie H., Platzer, Konrad, Bartolomaeus, Tobias, Wünsch, Cornelia, Fischer, Susann, Rodriguez Barreto, Ana Maria, Granadillo, Jorge L., Schreiner, Elisabeth, Brunet, Theresa, Schatz, Ulrich A., Thiffault, Isabelle, Mullegama, Sureni V., Michaud, Jacques L., Hamdan, Fadi F., Rossignol, Elsa, and Campeau, Philippe M.

Published
2024
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3. Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy

Author

Helman, Guy, Zerem, Ayelet, Almad, Akshata, Hacker, Julia L., Woidill, Sarah, Sase, Sunetra, LeFevre, Alexandra N., Ekstein, Josef, Johansson, Martin M., Stutterd, Chloe A., Taft, Ryan J., Simons, Cas, Grinspan, Judith B., Pizzino, Amy, Schmidt, Johanna L., Harding, Brian, Hirsch, Yoel, Viaene, Angela N., Fattal-Valevski, Aviva, and Vanderver, Adeline

Published
2021
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5. Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

Author

Lewis, Hannah, Samanta, Debopam, Örsell, Jenny-Li, Bosanko, Katherine A., Rowell, Amy, Jones, Melissa, Dale, Russell C., Taravath, Sasidharan, Hahn, Cecil D., Krishnakumar, Deepa, Chagnon, Sarah, Keller, Stephanie, Hagebeuk, Eveline, Pathak, Sheel, Bebin, E. Martina, Arndt, Daniel H., Alexander, John J., Mainali, Gayatra, Coppola, Giangennaro, Maclean, Jane, Sparagana, Steven, McNamara, Nancy, Smith, Douglas M., Raggio, Víctor, Cruz, Marcos, Fernández-Jaén, Alberto, Kava, Maina P., Emrick, Lisa, Fish, Jennifer L., Vanderver, Adeline, Helman, Guy, Pierson, Tyler M., and Zarate, Yuri A.

Published
2020
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6. Phenotypic and Imaging Spectrum Associated With WDR45

Author

Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, Chloé, Milh, Matthieu, Perrine, Charles, Schaaf, Christian P., Poulat, Anne-Lise, Ville, Dorothee, Hagelstrom, Tanner, Perry, Denise L., Taft, Ryan J., Goldstein, Amy, Vossough, Arastoo, Helbig, Ingo, and Vanderver, Adeline

Published
2020
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7. Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

Author

Mirchi, Amytice, Pelletier, Félixe, Tran, Luan T., Keller, Stephanie, Braverman, Nancy, Tonduti, Davide, Vanderver, Adeline, Pizzino, Amy, Dilenge, Marie-Emmanuelle, Poulin, Chantal, Shevell, Michael, Majnemer, Annette, Sébire, Guillaume, Srour, Myriam, Osterman, Bradley, Boucher, Renée-Myriam, Vanasse, Michel, Rossignol, Elsa, Mitchell, John, Venkateswaran, Sunita, Pohl, Daniela, Kauffman, Marcelo, Schiffmann, Raphael, Goizet, Cyril, Moutton, Sebastien, Roncarolo, Federico, and Bernard, Geneviève

Published
2018
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8. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss—Another Mendelian Mimicker of Congenital Cytomegalovirus Infection

Author

Ulrick, Nicole, Goldstein, Amy, Simons, Cas, Taft, Ryan J., Helman, Guy, Pizzino, Amy, Bloom, Miriam, Vogt, Julie, Pysden, Karen, Diodato, Daria, Martinelli, Diego, Monavari, Ahmad, Buhas, Daniela, van Karnebeek, Clara D.M., Dorboz, Imen, Boespflug-Tanguy, Odile, Rodriguez, Diana, Tétreault, Martine, Majewski, Jacek, Bernard, Genevieve, Ng, Yi Shiau, McFarland, Robert, and Vanderver, Adeline

Published
2017
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9. Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

Author

Michel Vanasse, Amy Pizzino, Adeline Vanderver, Félixe Pelletier, Renee Myriam Boucher, Luan T. Tran, Geneviève Bernard, Nancy Braverman, Federico Roncarolo, Stephanie Keller, Myriam Srour, Cyril Goizet, Elsa Rossignol, Bradley Osterman, Marcelo Andrés Kauffman, Amytice Mirchi, Sébastien Moutton, Daniela Pohl, Sunita Venkateswaran, Michael Shevell, Davide Tonduti, Guillaume Sébire, Chantal Poulin, Annette Majnemer, John J. Mitchell, Marie Emmanuelle Dilenge, and Raphael Schiffmann

Subjects
0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, 030105 genetics & heredity, Severity of Illness Index, Leukoencephalopathy, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Wheelchair, Quality of life (healthcare), Developmental Neuroscience, Leukoencephalopathies, Medicine, Humans, Prospective cohort study, Child, Dystonia, Sialorrhea, business.industry, Infant, medicine.disease, Gastrostomy, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Quality of Life, Female, Neurology (clinical), business, Psychosocial, 030217 neurology & neurosurgery
Abstract

Background We attempted to characterize the health-related quality of life in patients with genetically determined leukoencephalopathies as it relates to the severity of clinical features and the presence or absence of a precise molecular diagnosis. Methods Health-related quality of life was assessed using the Pediatric Quality of Life Inventory model (Pediatric Quality of Life Inventory 4.0 Self- and Proxy-reports) on 59 patients diagnosed with genetically determined leukoencephalopathies. In total, 38 male and 21 female patients ranging from one to 32 years of age (mean nine years), as well as their parents, completed the Pediatric Quality of Life Inventory health-related quality of life measures. In addition, participants completed detailed standardized clinical assessments or questionnaires. The correlation between health-related quality of life results and the severity of the clinical features, as well as the presence or absence of a molecular diagnosis, were analyzed. Results Patients with more severe clinical features showed statistically significant lower total Pediatric Quality of Life Inventory scores. More specifically, lower health-related quality of life was noted in children with sialorrhea, gastrostomy, and dystonia and in children who use a wheelchair. Conclusions Patients with more severe clinical features experience a lower quality of life. Our study further highlights the importance of addressing both physical and psychosocial issues and discussing perception of quality of life with both parents and children. A larger multicenter prospective study will be needed to further define the burden of these diseases and to identify modifiable factors.

Published
2017

10. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection

Author

Adeline Vanderver, Geneviève Bernard, Imen Dorboz, Jacek Majewski, Robert McFarland, Daniela Buhas, Daria Diodato, Clara D.M. van Karnebeek, Karen Pysden, Diana Rodriguez, Miriam Bloom, Julie Vogt, Cas Simons, Amy Pizzino, Diego Martinelli, Amy Goldstein, Yi Shiau Ng, Guy Helman, Ahmad Monavari, Odile Boespflug-Tanguy, Ryan J. Taft, Martine Tétreault, Nicole Ulrick, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, and Paediatric Metabolic Diseases

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, Hearing loss, Congenital cytomegalovirus infection, Cell Cycle Proteins, 030105 genetics & heredity, Deafness, Meiotic nuclear division, Temporal lobe, Leukoencephalopathy, Cohort Studies, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Leukoencephalopathies, Medicine, Humans, Child, medicine.diagnostic_test, business.industry, Brain Neoplasms, Cysts, Infant, Magnetic resonance imaging, Cystic Change, medicine.disease, Hyperintensity, Temporal Lobe, 3. Good health, Phenotype, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cytomegalovirus Infections, Mutation, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Background Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi–Goutieres syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection. Methods We reviewed a large-scale biorepository of patients with unsolved leukodystrophies and identified two individuals with required for meiotic nuclear division 1 ( RMND1 ) mutations and similar magnetic resonance imaging (MRI) features, including temporal lobe cysts. Ten additional subjects with confirmed RMND1 mutations were identified as part of a separate disease specific cohort. Brain MRIs from all 12 individuals were reviewed for common neuroradiological features. Results MRI features in RMND1 mutations included temporal lobe swelling, with rarefaction and cystic evolution, enlarged tips of the temporal lobes, and multifocal subcortical white matter changes with confluent periatrial T2 signal hyperintensity. A combination of these features was present in ten of the 12 individuals reviewed. Conclusions Despite the small number of reported individuals with RMND1 mutations, a clinically recognizable phenotype of leukoencephalopathy with temporal lobe swelling, rarefaction, and cystic changes has emerged in a subset of individuals. Careful clinical phenotyping, including for lactic acidosis, deafness, and severe muscle involvement seen in RMND1 mutation positive individuals, and MRI pattern recognition will be important in differentiating these patients from children with congenital infections like cytomegalovirus.

Published
2016

11. Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy

Author

David Miller, Miriam Bloom, Bennett Lavenstein, Adeline Vanderver, Ryan J. Taft, Cas Simons, Phillip L. Pearl, Sean M. Grimmond, and Johanna L. Schmidt

Subjects
Male, Models, Molecular, Pediatrics, medicine.medical_specialty, Pathology, Potassium Channels, Nerve Tissue Proteins, macromolecular substances, Potassium Channels, Sodium-Activated, Biology, medicine.disease_cause, Article, White matter, Leukoencephalopathy, Epilepsy, Developmental Neuroscience, Leukoencephalopathies, medicine, Humans, Child, Exome sequencing, Mutation, medicine.diagnostic_test, Electroencephalography, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Clinical research, nervous system, Neurology, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical)
Abstract

BACKGROUND: More than half of patients with genetic leukoencephalopathies remain without a specific diagnosis; this is particularly true in individuals with a likely primary neuronal etiology, such as those in which abnormal white matter occurs in combination with severe epilepsy. PATIENT: A child with a severe early infantile epileptic encephalopathy and abnormal myelination underwent whole exome sequencing. RESULTS: Whole exome sequencing identified a heterozygous de novo mutation in KCNT1, a sodium-gated potassium channel gene. CONCLUSIONS: Severely delayed myelination was anecdotally reported in previous patients with KCNT1 mutations. This case reinforces that KCNT1 sequencing should be included in an investigation of patients with severely delayed myelination and epilepsy.

Published
2014
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12. MRI Features of 4 Female Patients With Pyruvate Dehydrogenase E1 alpha Deficiency

Author

Nicholas Ah Mew, Adeline Vanderver, Andrea L. Gropman, Johanna Loewenstein, Jodie M. Martin, Nadja Kadom, and Uta Lichter-Konecki

Subjects
medicine.medical_specialty, Pathology, Alpha (ethology), Biology, Article, Corpus Callosum, Developmental Neuroscience, Internal medicine, medicine, Humans, Pyruvate Dehydrogenase (Lipoamide), Pyruvate Dehydrogenase Complex Deficiency Disease, G alpha subunit, Periventricular leukomalacia, medicine.diagnostic_test, Brain, Infant, Magnetic resonance imaging, medicine.disease, Pyruvate dehydrogenase complex, Magnetic Resonance Imaging, Pyruvate dehydrogenase deficiency, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical)
Abstract

Pyruvate dehydrogenase complex is a key intramitochondrial multienzyme complex required for the conversion of pyruvate to acetyl-CoA. Most patients with pyruvate dehydrogenase deficiency have a defect in the E1 alpha subunit, associated with mutations in the PDHA1 gene. In this report, we submit detailed magnetic resonance images in 4 affected female patients with PDHA1 mutations who had with severe cortical atrophy, dilated ventricles, and an incomplete corpus callosum. In one of these patients, the magnetic resonance imaging pattern prompted molecular diagnostic testing when enzymatic testing was normal. We underscore that this constellation of features, which may be misdiagnosed as periventricular leukomalacia, illustrates a pattern highly suggestive of a deficiency of pyruvate dehydrogenase E1 alpha in female patients and should trigger appropriate diagnostic investigations.

Published
2011
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