Results 151 to 160 of about 122,559 (261)

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Genetic insights: proband- only exome sequencing in pediatric neurological disorders. [PDF]

J Community Genet
Uppal K, Kaushik H, Gupta MB, Polipalli SK, Kumar S, Kapoor S.   +5 more
europepmc   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions. [PDF]

Clin Genet
Araji S, Zhao X, Rosenfeld JA, Lalani SR, Scott DA.   +4 more
europepmc   +1 more source

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

Epilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis, Emilia Ricci, Maria Paola Canevini, Lieven Lagae, Kentaro Tokumoto, Yushi Inoue, Tim Buckinx, Allison Watson, Kenneth A. Myers   +8 more
wiley   +1 more source

Exome sequencing identifies known and candidate genes in hearing impairment in Cameroon. [PDF]

Commun Med (Lond)
Wonkam A, Wonkam-Tingang E, Yalcouyé A, Noubiap JJ, Nguefack S, Ngo Bitoungui VJ, Xhakaza L, Popel K, Bharadwaj T, Latanich R, Fortes-Lima CA, de Kock C, Esoh K, Zhang H, Schrauwen I, Mueller U, Leal SM.   +16 more
europepmc   +1 more source

Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy

Epilepsia, EarlyView.
Abstract Objective To determine the diagnostic yield of genetic testing in patients undergoing presurgical evaluation for epilepsy. Methods We conducted a cohort study including 115 adult patients who underwent presurgical evaluation in the Calgary Epilepsy Program between 2019 and 2023 and who had undergone research exome sequencing.
Clara Jünemann, Amanda Stuart, Navprabhjot Kaur, Samuel Wiebe, Nathalie Jette, Shaily Singh, Felippe Borlot, Susanne Knake, The Calgary Comprehensive Epilepsy Program Collaborators, Paolo Federico, Colin Josephson, William Murphy, Andrea Salmon, Guillermo Delgado Garcia, Walter Hader, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Interstitial cystitis: a phenotype and rare variant exome sequencing study. [PDF]

EBioMedicine
Motelow JE, Malakar A, Krishna Murthy SB, Verbitsky M, Kahn A, Estrella E, Shao W, Kunkel L, Wiesenhahn M, Beckett J, Harris N, Lee R, Adam R, Barbour KE, Hakonarson H, Luo Y, Weng C, Mendelsohn CL, Kiryluk K, Gharavi AG, Brownstein CA.   +20 more
europepmc   +1 more source

Epileptic encephalopathy with spike‐and‐wave activation in sleep associated with Tatton–Brown–Rahman syndrome responsive to highly purified cannabidiol

Epileptic Disorders, EarlyView.
Anita N. Datta
wiley   +1 more source

A translational multimodal machine‐learning prototype predicting valproate response in epilepsy treatment

Epilepsia, EarlyView.
Abstract Objective Epilepsy affects ~1% of the global population and often requires lifelong antiseizure medication (ASM) therapy. Valproic acid (VPA) is a commonly prescribed first‐line ASM, yet only approximately half of patients achieve sustained seizure freedom. Treatment selection remains largely empirical.
Simeon Platte, Afsheen Kumar, Giorgia Guerini, Massimo Pandolfo, Denise Haslinger, Colin B. Josephson, Guillermo Delgado‐García, Navprabhjot Kaur, Michaela‐Pauline Lux, Heiko Stempfle, Chantal Depondt, Reetta Kälviäinen, Felix Rosenow, Sophie von Brauchitsch, Karl Martin Klein, Andreas G. Chiocchetti   +15 more
wiley   +1 more source