Results 181 to 190 of about 122,559 (261)

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals

Epilepsia Open, EarlyView.
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Akshat Katyayan, Christina Briscoe, Sonam Bhalla, Sonal Bhatia, Gozde Erdemir, Chellamani Harini, Senyene E. Hunter, John R. Mytinger, Duyu Nie, Archana Pasupuleti, Shital H. Patel, Debopam Samanta, Amanda Sandoval Karamian, Avantika Singh, Deepa Sirsi, Danielle S. Takacs, Shaun A. Hussain   +16 more
wiley   +1 more source

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. [PDF]

Nat Genet
Kim HI, DeBoever C, Walter K, Kalantzis G, Li C, Mozaffari SV, Kundu K, Jacobs BM, Mohammadi-Shemirani P, Musolf AM, Davitte JM, Aksit MA, Gafton J, Catalano KA, Dawed AY, Graham RR, Guo B, Gupta N, Heng TH, Hunt KA, Iyer V, Langenberg C, Lassen FH, MacArthur DG, Maher ER, Maroteau C, Newman WG, O'Rahilly S, Palmer DS, Popov I, Siddiqui MK, Simpson MA, Spreckley M, Wright J, Genes and Health Research Team, Del Angel G, Petrovski S, Holzinger ER, Maranville JC, Addis L, Turner RM, Estrada K, Longerich S, Howson JMM, Jamshidi Y, Fauman EB, Miller MR, Diogo D, Trembath RC, Finer S, Martin HC, van Heel DA.   +51 more
europepmc   +1 more source

Whole-Exome Sequencing [PDF]

, 2019
openaire   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

No association between genetic ancestry and exome sequencing-based diagnosis of inborn errors of metabolism. [PDF]

NPJ Genom Med
Najera J, Mavura Y, Adhikari A, Kvale M, Gallagher RC, Risch N.   +5 more
europepmc   +1 more source

Response to anti‐seizure medications in children carrying novel or previously reported HCN1 gene variants

Epilepsia Open, EarlyView.
Abstract Objective Variants in the HCN1 gene cause a syndrome of childhood epilepsy and developmental disability with a broad phenotypic range. Many affected children manifest with early infantile epileptic encephalopathy (EIEE) and highly drug‐resistant epilepsy.
Marium N. Khan, Nicholas P. Poolos
wiley   +1 more source

Whole-exome sequencing identifies a CD38 variant in a Chinese family with hodgkin's lymphoma. [PDF]

Ann Hematol
Chen X, Xie L, Wu W, Jiang M, Cui Y, Zou L.   +5 more
europepmc   +1 more source

Leveraging Whole-Exome Sequencing to Decipher the Genetic Landscape of Three Genodermatoses' Cases in Middle Eastern Pediatric Patients. [PDF]

Genes (Basel)
Kadhi A, Akl PA, Abbas O, El-Tayar E, Nemer G, Kurban M.   +5 more
europepmc   +1 more source