Search Results - "Mahida Sonal"

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort by Rochtus, Anne, Olson, Heather E., Smith, Lacey, Keith, Louisa G., El Achkar, Christelle, Taylor, Alan, Mahida, Sonal, Park, Meredith, Kelly, McKenna, Shain, Catherine, Rockowitz, Shira, Rosen Sheidley, Beth, Poduri, Annapurna

“…Objective We evaluated the yield of systematic analysis and/or reanalysis of whole exome sequencing (WES) data from a cohort of well‐phenotyped pediatric…”
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A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy by Ni, Min, Afroze, Bushra, Xing, Chao, Pan, Chunxiao, Shao, Yanqiu, Cai, Ling, Cantarel, Brandi L., Pei, Jimin, Grishin, Nick V., Hewson, Stacy, Knight, Devon, Mahida, Sonal, Michel, Donnice, Tarnopolsky, Mark, Poduri, Annapurna, Rotenberg, Alexander, Sondheimer, Neal, DeBerardinis, Ralph J.

“…Purpose Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific…”
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity by Asselin, Laure, Rivera Alvarez, José, Heide, Solveig, Bonnet, Camille S., Tilly, Peggy, Vitet, Hélène, Weber, Chantal, Bacino, Carlos A., Baranaño, Kristin, Chassevent, Anna, Dameron, Amy, Faivre, Laurence, Hanchard, Neil A., Mahida, Sonal, McWalter, Kirsty, Mignot, Cyril, Nava, Caroline, Rastetter, Agnès, Streff, Haley, Thauvin-Robinet, Christel, Weiss, Marjan M., Zapata, Gladys, Zwijnenburg, Petra J. G., Saudou, Frédéric, Depienne, Christel, Golzio, Christelle, Héron, Delphine, Godin, Juliette D.

“…KIF21B is a kinesin protein that promotes intracellular transport and controls microtubule dynamics. We report three missense variants and one duplication in…”
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KCNQ2‐DEE: developmental or epileptic encephalopathy? by Berg, Anne T., Mahida, Sonal, Poduri, Annapurna

“…Objective KCNQ2‐associated developmental and epileptic encephalopathies (DEE) present with seizures and developmental impairments. The relation between…”
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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism by Kim, Hyung-Goo, Rosenfeld, Jill A, Scott, Daryl A, Bénédicte, Gerard, Labonne, Jonathan D, Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des Portes, Vincent, Bruel, Ange-Line, Sorlin, Arthur, Xia, Fan, Capri, Yline, Muller, Eric, McKnight, Dianalee, Torti, Erin, Rüschendorf, Franz, Hummel, Oliver, Islam, Zeyaul, Kolatkar, Prasanna R, Layman, Lawrence C, Ryu, Duchwan, Kong, Il-Keun, Madan-Khetarpal, Suneeta, Kim, Cheol-Hee

“…has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its…”
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Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings by McGraw, Christopher M., Mahida, Sonal, Jayakar, Parul, Koh, Hyun Yong, Taylor, Alan, Resnick, Trevor, Rodan, Lance, Schwartz, Marc A., Ejaz, Ayesha, Sankaran, Vijay G., Berry, Gerard, Poduri, Annapurna

“…We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For…”
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Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy by Knight, Devon, Mahida, Sonal, Kelly, Mckenna, Poduri, Annapurna, Olson, Heather E.

“…Genetic variants in KCNQ2 are associated with a range of epilepsies, from self‐ limited (familial) neonatal‐infantile epilepsy to developmental and epileptic…”
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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders by Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.

“…Purpose For neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the need to…”
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CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and Phenotype by Ruiz, Ivan, Wiltrout, Kimberly, Stredny, Coral, Mahida, Sonal

“…Background: Genetic testing for neurodevelopmental disorders is now considered the standard of care for unexplained epilepsy as well as autism spectrum…”
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Expansion of the Genotypic and Phenotypic Spectrum of IASH1L/I-Related Syndromic Neurodevelopmental Disorder by Cordova, Ineke, Blesson, Alyssa, Savatt, Juliann M, Sveden, Abigail, Mahida, Sonal, Hazlett, Heather, Rooney Riggs, Erin, Chopra, Maya

“…Pathogenic ASH1L variants have been reported in probands with broad phenotypic presentations, including intellectual disability, autism spectrum disorder,…”
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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome by Dohrn, Maike F, Rebelo, Adriana P, Srivastava, Siddharth, Cappuccio, Gerarda, Smigiel, Robert, Malhotra, Alka, Basel, Donald, van de Laar, Ingrid, Neuteboom, Rinze Frederik, Aarts-Tesselaar, Coranne, Mahida, Sonal, Brunetti-Pierri, Nicola, Taft, Ryan, Züchner, Stephan

“…ATP1A1 encodes the α1 subunit of the sodium-potassium ATPase, an electrogenic cation pump highly expressed in the nervous system. Pathogenic variants in other…”
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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome by Dohrn, Maike F., Rebelo, Adriana P., Srivastava, Siddharth, Cappuccio, Gerarda, Smigiel, Robert, Malhotra, Alka, Basel, Donald, van de Laar, Ingrid, Neuteboom, Rinze Frederik, Aarts-Tesselaar, Coranne, Mahida, Sonal, Brunetti-Pierri, Nicola, Taft, Ryan J., Züchner, Stephan

“…ATP1A1 encodes the α1 subunit of the sodium-potassium ATPase, an electrogenic cation pump highly expressed in the nervous system. Pathogenic variants in other…”
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies by Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldomery, Mohammad K., Akdemir, Zeynep Coban, Lewis, Andrea M., Sutton, Vernon R., Rosenfeld, Jill A., Conboy, Erin, Agre, Katherine, Xia, Fan, Walkiewicz, Magdalena, Longoni, Mauro, High, Frances A., van Slegtenhorst, Marjon A., Mancini, Grazia M.S., Finnila, Candice R., van Haeringen, Arie, den Hollander, Nicolette, Ruivenkamp, Claudia, Naidu, Sakkubai, Mahida, Sonal, Palmer, Elizabeth E., Murray, Lucinda, Lim, Derek, Jayakar, Parul, Parker, Michael J., Giusto, Stefania, Stracuzzi, Emanuela, Romano, Corrado, Beighley, Jennifer S., Bernier, Raphael A., Küry, Sébastien, Nizon, Mathilde, Corbett, Mark A., Shaw, Marie, Gardner, Alison, Barnett, Christopher, Armstrong, Ruth, Kassahn, Karin S., Van Dijck, Anke, Vandeweyer, Geert, Kleefstra, Tjitske, Schieving, Jolanda, Jongmans, Marjolijn J., de Vries, Bert B.A., Pfundt, Rolph, Kerr, Bronwyn, Rojas, Samantha K., Boycott, Kym M., Person, Richard, Willaert, Rebecca, Eichler, Evan E., Kooy, R. Frank, Yang, Yaping, Wu, Joseph C., Lupski, James R., Arnesen, Thomas, Cooper, Gregory M., Chung, Wendy K., Gecz, Jozef, Stessman, Holly A.F., Meng, Linyan, Lyon, Gholson J.

“…N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the…”
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A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism by Nguyen, Thi Tuyet Mai, Mahida, Sonal, Smith‐Hicks, Constance, Campeau, Philippe M.

“…We identified an individual with a homozygous missense variant (p.Ser103Pro) in a conserved residue of the glycosylphosphatidylinositol (GPI) biosynthesis gene…”
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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development by Woerden, Geeske M., Bos, Melanie, Konink, Charlotte, Distel, Ben, Avagliano Trezza, Rossella, Shur, Natasha E., Barañano, Kristin, Mahida, Sonal, Chassevent, Anna, Schreiber, Allison, Erwin, Angelika L., Gripp, Karen W., Rehman, Fatima, Brulleman, Saskia, McCormack, Róisín, Geus, Gwynna, Kalsner, Louisa, Sorlin, Arthur, Bruel, Ange‐Line, Koolen, David A., Gabriel, Melissa K., Rossi, Mari, Fitzpatrick, David R., Wilkie, Andrew O.M., Calpena, Eduardo, Johnson, David, Brooks, Alice, Slegtenhorst, Marjon, Fleischer, Julie, Groepper, Daniel, Lindstrom, Kristin, Innes, A. Micheil, Goodwin, Allison, Humberson, Jennifer, Noyes, Amanda, Langley, Katherine G., Telegrafi, Aida, Blevins, Amy, Hoffman, Jessica, Guillen Sacoto, Maria J., Juusola, Jane, Monaghan, Kristin G., Punj, Sumit, Simon, Marleen, Pfundt, Rolph, Elgersma, Ype, Kleefstra, Tjitske

“…Thousand and one amino‐acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating different mitogen‐activated protein kinase pathways, thereby modulating a…”
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Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder by Cordova, Ineke, Blesson, Alyssa, Savatt, Juliann M, Sveden, Abigail, Mahida, Sonal, Hazlett, Heather, Rooney Riggs, Erin, Chopra, Maya

“…Pathogenic variants have been reported in probands with broad phenotypic presentations, including intellectual disability, autism spectrum disorder, attention…”
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Expansion of the clinical spectrum associated with AARS2‐related disorders by Srivastava, Siddharth, Butala, Ankur, Mahida, Sonal, Richter, John, Mu, Weiyi, Poretti, Andrea, Vernon, Hilary, VanGerpen, Jay, Atwal, Paldeep S., Middlebrooks, Erik H., Zee, David S., Naidu, SakkuBai

“…Biallelic pathogenic variants in AARS2, a gene encoding the mitochondrial alanyl‐tRNA synthetase, result in a spectrum of findings ranging from infantile…”
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy by Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y., Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M., Gunay-Aygun, Meral, Muriello, Michael J., Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G., Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl A. A. P., Oegema, Renske, Mitchell, Wendy G., Pierson, Tyler Mark, Andrews, Marisa V., Willing, Marcia C., Rodan, Lance H., Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H., Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M., Hashem, Mais O., AlSayed, Moeenaldeen D., Abdulrahim, Maha M., Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel A. H., Faqeih, Eissa A., Asmari, Ali Al, Algain, Sulwan M., Jad, Lamyaa A., Aldhalaan, Hesham M., Helbig, Ingo, Koolen, David A., Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E., Klee, Eric W., Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A., Stewart, James C., Claridge-Chang, Adam, Lefeber, Dirk J., Alkuraya, Fowzan S., Mathuru, Ajay S., Venkatesh, Byrappa, Barycki, Joseph J., Simpson, Melanie A., Jamuar, Saumya S., Schöls, Ludger, Reversade, Bruno

“…Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an…”
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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications by Deshwar, Ashish R, Cytrynbaum, Cheryl, Murthy, Harsha, Zon, Jessica, Chitayat, David, Volpatti, Jonathan, Newbury-Ecob, Ruth, Ellard, Sian, Allen, Hana Lango, Yu, Emily P, Noche, Ramil, Walker, Suzi, Scherer, Stephen W, Mahida, Sonal, Elitt, Christopher M, Nicolas, Gaël, Goldenberg, Alice, Saugier-Veber, Pascale, Lecoquierre, Francois, Dabaj, Ivana, Meddaugh, Hannah, Marble, Michael, Keppler-Noreuil, Kim M, Drayson, Lucy, Barañano, Kristin W, Chassevent, Anna, Agre, Katie, Létard, Pascaline, Bilan, Frederic, Le Guyader, Gwenaël, Laquerrière, Annie, Ramsey, Keri, Henderson, Lindsay, Brady, Lauren, Tarnopolsky, Mark, Bainbridge, Matthew, Friedman, Jennifer, Capri, Yline, Athayde, Larissa, Kok, Fernando, Gurgel-Giannetti, Juliana, Ramos, Luiza L P, Blaser, Susan, Dowling, James J, Weksberg, Rosanna

“…Abstract The blood–brain barrier ensures CNS homeostasis and protection from injury. Claudin-5 (CLDN5), an important component of tight junctions, is critical…”
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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies by Platzer, Konrad, Sticht, Heinrich, Edwards, Stacey L., Allen, William, Angione, Kaitlin M., Bonati, Maria T., Brasington, Campbell, Cho, Megan T., Demmer, Laurie A., Falik-Zaccai, Tzipora, Gamble, Candace N., Hellenbroich, Yorck, Iascone, Maria, Kok, Fernando, Mahida, Sonal, Mandel, Hanna, Marquardt, Thorsten, McWalter, Kirsty, Panis, Bianca, Pepler, Alexander, Pinz, Hailey, Ramos, Luiza, Shinde, Deepali N., Smith-Hicks, Constance, Stegmann, Alexander P.A., Stöbe, Petra, Stumpel, Constance T.R.M., Wilson, Carolyn, Lemke, Johannes R., Di Donato, Nataliya, Miller, Kenneth G., Jamra, Rami

“…Using exome sequencing, we have identified de novo variants in MAPK8IP3 in 13 unrelated individuals presenting with an overlapping phenotype of mild to severe…”
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