Search Results - "Mikati, Mohamad A."

The epileptology of alternating hemiplegia of childhood by Uchitel, Julie, Helseth, Ashley, Prange, Lyndsey, McLean, Melissa, Ghusayni, Ryan, Sachdev, Monisha, Hunanyan, Arsen, Mikati, Mohamad A

“…OBJECTIVETo report our experience and investigate 5 original hypotheses(1) multiple types of epileptic seizures occur in alternating hemiplegia of childhood…”
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Quinidine in the treatment of KCNT1-positive epilepsies by Mikati, Mohamad A, Jiang, Yong-hui, Carboni, Michael, Shashi, Vandana, Petrovski, Slave, Spillmann, Rebecca, Milligan, Carol J., Li, Melody, Grefe, Annette, McConkie, Allyn, Berkovic, Samuel, Scheffer, Ingrid, Mullen, Saul, Bonner, Melanie, Petrou, Steven, Goldstein, David

“…We report 2 patients with drug‐resistant epilepsy caused by KCNT1 mutations who were treated with quinidine. Both mutations manifested gain of function in…”
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Distinct neurological disorders with ATP1A3 mutations by Heinzen, Erin L, Dr, Arzimanoglou, Alexis, MD, Brashear, Allison, Prof, Clapcote, Steven J, PhD, Gurrieri, Fiorella, Prof, Goldstein, David B, Prof, Jóhannesson, Sigurður H, Mikati, Mohamad A, Prof, Neville, Brian, Prof, Nicole, Sophie, PhD, Ozelius, Laurie J, PhD, Poulsen, Hanne, PhD, Schyns, Tsveta, PhD, Sweadner, Kathleen J, PhD, van den Maagdenberg, Arn, Prof, Vilsen, Bente, Prof

“…Summary Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3 , the gene encoding the α3 subunit of Na+ /K+ -ATPase,…”
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Somatic variants in diverse genes leads to a spectrum of focal cortical malformations by Lai, Dulcie, Gade, Meethila, Yang, Edward, Koh, Hyun Yong, Lu, Jinfeng, Walley, Nicole M, Buckley, Anne F, Sands, Tristan T, Akman, Cigdem I, Mikati, Mohamad A, McKhann, Guy M, Goldman, James E, Canoll, Peter, Alexander, Allyson L, Park, Kristen L, Von Allmen, Gretchen K, Rodziyevska, Olga, Bhattacharjee, Meenakshi B, Lidov, Hart G W, Vogel, Hannes, Grant, Gerald A, Porter, Brenda E, Poduri, Annapurna H, Crino, Peter B, Heinzen, Erin L

“…Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies,…”
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Clinical utility of genetic testing in pediatric drug-resistant epilepsy: A pilot study by Ream, Margie A, Mikati, Mohamad A

“…Abstract Rationale The utility of genetic testing in pediatric drug-resistant epilepsy (PDRE), its yield in “real life” clinical practice, and the practical…”
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Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H by Mulkey, Sarah B., Ben‐Zeev, Bruria, Nicolai, Joost, Carroll, John L., Grønborg, Sabine, Jiang, Yong‐hui, Joshi, Nishtha, Kelly, Megan, Koolen, David. A., Mikati, Mohamad A., Park, Kristen, Pearl, Phillip L., Scheffer, Ingrid E., Spillmann, Rebecca C., Taglialatela, Maurizio, Vieker, Silvia, Weckhuysen, Sarah, Cooper, Edward C., Cilio, Maria Roberta

“…Summary Objective To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain‐of‐function electrophysiologic properties in vitro, have a…”
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Diagnosis and Treatment of Alternating Hemiplegia of Childhood by Masoud, Melanie, Prange, Lyndsey, Wuchich, Jeffrey, Hunanyan, Arsen, Mikati, Mohamad A.

“…Opinion statement The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a…”
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Novel E815K knock-in mouse model of alternating hemiplegia of childhood by Helseth, Ashley R., Hunanyan, Arsen S., Adil, Syed, Linabarger, Molly, Sachdev, Monisha, Abdelnour, Elie, Arehart, Eric, Szabo, Marlee, Richardson, Jordan, Wetsel, William C., Hochgeschwender, Ute, Mikati, Mohamad A.

“…De novo mutations causing dysfunction of the ATP1A3 gene, which encodes the α3 subunit of Na+/K+-ATPase pump expressed in neurons, result in alternating…”
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Efficacy and safety of ketogenic diet for treatment of pediatric convulsive refractory status epilepticus by Arya, Ravindra, Peariso, Katrina, Gaínza-Lein, Marina, Harvey, Jessica, Bergin, Ann, Brenton, J. Nicholas, Burrows, Brian T., Glauser, Tracy, Goodkin, Howard P., Lai, Yi-Chen, Mikati, Mohamad A., Fernández, Iván Sánchez, Tchapyjnikov, Dmitry, Wilfong, Angus A., Williams, Korwyn, Loddenkemper, Tobias

“…•KD achieved EEG seizure resolution in 71% of patients with RSE within 7 days.•79% of RSE patients could be weaned off their infusion treatments within…”
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Stiripentol in Dravet syndrome: Results of a retrospective U.S. study by Wirrell, Elaine C., Laux, Linda, Franz, David N., Sullivan, Joseph, Saneto, Russell P., Morse, Richard P., Devinsky, Orrin, Chugani, Harry, Hernandez, Angel, Hamiwka, Lorie, Mikati, Mohamad A., Valencia, Ignacio, Le Guern, Marie‐Emmanuelle, Chancharme, Laurent, Menezes, Marcio Sotero

“…Summary Purpose To review the efficacy and tolerability of stiripentol in the treatment of U.S. children with Dravet syndrome. Methods U.S. clinicians who had…”
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Paroxysmal Genetic Movement Disorders and Epilepsy by de Gusmão, Claudio M, Garcia, Lucas, Mikati, Mohamad A, Su, Samantha, Silveira-Moriyama, Laura

“…Paroxysmal movement disorders include paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia, and…”
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Knock‐in mouse model of alternating hemiplegia of childhood: Behavioral and electrophysiologic characterization by Hunanyan, Arsen S., Fainberg, Nina A., Linabarger, Molly, Arehart, Eric, Leonard, A. Soren, Adil, Syed M., Helseth, Ashley R., Swearingen, Amanda K., Forbes, Stacy L., Rodriguiz, Ramona M., Rhodes, Theodore, Yao, Xiaodi, Kibbi, Nadine, Hochman, Daryl W., Wetsel, William C., Hochgeschwender, Ute, Mikati, Mohamad A.

“…Summary Objectives Mutations in the ATP1α3 subunit of the neuronal Na+/K+‐ATPase are thought to be responsible for seizures, hemiplegias, and other symptoms of…”
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Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments by Pratt, Milton, Uchitel, Julie, McGreal, Nancy, Gordon, Kelly, Prange, Lyndsey, McLean, Melissa, Noel, Richard J, Rikard, Blaire, Rogers Boruta, Mary K, Mikati, Mohamad A

“…Abstract Background Alternating Hemiplegia of Childhood (AHC) is caused by mutations of the ATP1A3 gene which is expressed in brain areas that include…”
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The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies by Shbarou, Rolla, MD, Mikati, Mohamad A., MD

“…Pediatric epileptic encephalopathies represent a clinically challenging and often devastating group of disorders that affect children at different stages of…”
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Care for Child Development: Basic Science Rationale and Effects of Interventions by Holt, Rebecca L., BA, Mikati, Mohamad A., MD

“…The past few years have witnessed increasing interest in devising programs to enhance early childhood development. We review current understandings of brain…”
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Sibling umbilical cord blood infusion is safe in young children with cerebral palsy by Sun, Jessica M., Case, Laura E., Mikati, Mohamad A., Jasien, Joan, McLaughlin, Colleen, Waters‐Pick, Barbara, Worley, Gordon, Troy, Jesse, Kurtzberg, Joanne

“…Preclinical and early phase clinical studies suggest that an appropriately dosed umbilical cord blood (CB) infusion has the potential to help improve motor…”
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Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy by Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Ruzzo, Elizabeth K., Walley, Nicole M., Need, Anna C., Ge, Dongliang, He, Min, Cirulli, Elizabeth T., Zhao, Qian, Cronin, Kenneth D., Gumbs, Curtis E., Campbell, C. Ryan, Hong, Linda K., Maia, Jessica M., Shianna, Kevin V., McCormack, Mark, Radtke, Rodney A., O'Conner, Gerard D., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Sinha, Saurabh R., Chinthapalli, Krishna, Puranam, Ram S., McNamara, James O., Ottman, Ruth, Sisodiya, Sanjay M., Delanty, Norman, Goldstein, David B.

“…Idiopathic generalized epilepsy (IGE) is a complex disease with high heritability, but little is known about its genetic architecture. Rare copy-number…”
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Quality of life after epilepsy surgery: Study designs and outcome assessments by Mikati, Mohamad A

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Genetics of Pediatric Epilepsy by Hani, Abeer J., MD, Mikati, Husam M., RA, Mikati, Mohamad A., MD

“…As the genetic etiologies of an expanding number of epilepsy syndromes are revealed, the complexity of the phenotype genotype correlation increases. As our…”
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Brain structural connectivity increases concurrent with functional improvement: evidence from diffusion tensor MRI in children with cerebral palsy during therapy by Englander, Zoë A, Sun, Jessica, Laura Case, Mikati, Mohamad A, Kurtzberg, Joanne, Song, Allen W

“…Cerebral Palsy (CP) refers to a heterogeneous group of permanent but non-progressive movement disorders caused by injury to the developing fetal or infant…”
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