Results 91 to 100 of about 118,836 (248)

Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation

The Turkish Journal of Pediatrics, 2019
STXBP1 gene mutations are among the most common mutations in earlyonset epileptic encephalopathies. The clinical spectrum of STXBP1 mutations is not limited to epileptic phenotypes and also includes atypical Rett syndrome and non-syndromic sporadic ...
Aydan Değerliyurt, Gamze Gezgen Kesen, Serdar Ceylaner   +2 more
doaj   +1 more source

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy [PDF]

, 2015
peer reviewedEpileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features1–6.
Müller, Stephan, Helbig, Ingo, Hedrich, Ulrike B S, Matthis Synofzik, Heinrich Vogt, Roland Krause, Dana C Craiu, Schoels, Ludger, Riesch, Erik, Maher, Bridget, Wolff, Markus, Detert, Katja, Weckhuysen, Sarah, Ingo Helbig, Sterbova, Katalin, Schöls, Ludger, Lerche, Holger, Møller, Rikke S., Sanjay M., Primus E Mullis, Hande S Caglayan, Ludger Schöls, Anna-Elina Lehesjoki, Andreas Merkenschlager, Astrid Bertsche, Maja Steinlin, Craiu, Dana C., Michael Nothnagel, Suls, Arvid, BALLING, Rudi, Mullis, Primus E., Mueller, Stephan, Katalin Sterbova, Snezana Maljevic, Hedrich, Ulrike B.S., Michael Gonzalez, Serratosa, José M., MAY, Patrick, Christian M Korff, Markus Wolff, Weber, Yvonne G., Johannes R Lemke, Holger Lerche, Synofzik, Matthis, Biskup, Saskia, Caglayan, Hande S., KRAUSE, Roland, Saskia Biskup, Kiess, Wieland, Mullis, Primus E, Aarno Palotie, Weber, Yvonne G, Tania Djémié, Sabina Gallati, Sisodiya, Peter De Jonghe, Thomas Dorn, Vogt, Heinrich, Palotie, Aarno, Hernandez-Hernandez, Laura, Arvid Suls, Matthias K Bernhard, Bridget Maher, Lemke, Johannes R., Bernhard, Matthias K, Korff, Christian M., Caglayan, Hande S, Tarja Linnankivi, Löffler, Heidrun, Sarah Weckhuysen, Craiu, Dana C, Dorn, Thomas, Züchner, Stephan, Kraemer, Guenter, Stephan Züchner, Nishizaki, Steffen, Hedrich, Ulrike B. S., Schüle, Rebecca, Steffen Syrbe, Djémié, Tanja, Merkenschlager, Andreas, Dj\ue9mi\ue9, Tania, Loeffler, Heidrun, Sisodiya, Sanjay M, Katja Detert, Maljeviv, Snezana, EUROEPINOMICS RES consortium,, ?, ?, Zuechner, Stephan, Serratosa, José M, Gonzalez, Michael, José M Serratosa, Züchner, Stefan, Møller, Rikke S; id_orcid, Bertsche, Astrid, Maljevic, Snezana, Gallati, Sabina, Bernhard, Matthias K., Mutluay Arslan, Zara Federico, Erik Riesch, Lemke, Johannes, Korff, Christian M, Striano Pasquale, Yvonne G Weber, Sanjay M Sisodiya, De Jonghe, Peter, Lehesjoki, Anna-Elina, Rikke S Møller, Hoffman-Zacharska, Dorota, Mullis, Primus-Eugen, Syrbe, Steffen, Sisodoya, Sanjay M., Moller, Rikke S., Heidrun Löffler, Arslan, Mutluay, Patrick May, Wieland Kiess, Sisodiya, Sanjay M., Linnankivi, Tarja, Rebecca Schüle, Krämer, Günter, Günter Krämer, Laura Hernandez-Hernandez, Ulrike B S Hedrich, Dorota Hoffman-Zacharska, Møller, Rikke S, Steinlin, Maja, Lemke, Johannes R, Stephan Müller, Nothnagel, Michael, Djémié, Tania   +131 more
core   +1 more source

Electroencephalographic Signs Characteristic for Without Several Epileptic Encephalopathy in Preschool Children

, 2022
Epileptic encephalopathy is a condition when a pathological altered brainelectrogenesis is the cause of impaired brain function [5,6]. The epileptic process leads toprogressive impairment of brain functions.
Vafoeva G.R
core  

NMDAR‐antibody encephalitis: Seizure semiology and EEG findings

Epileptic Disorders, EarlyView.
Abstract Background N‐methyl‐D‐aspartate receptor antibody encephalitis (NMDAR‐Ab‐E) is an autoantibody‐mediated disorder, characterized by acute development of neuropsychiatric symptoms, seizures, movement disorders, and autonomic instability. Objectives To describe acute seizure semiology and electroencephalogram (EEG) findings in patients with a ...
Maria Emilia C. Andraus, Bernard Liem, Sidra Aurangzeb, Mkael Symmonds, Adam E. Handel, Sarosh R. Irani, Arjune Sen   +6 more
wiley   +1 more source

Diagnostic Lag in Precision Medicine

Clinical Pharmacology &Therapeutics, EarlyView.
Petr Heneberg
wiley   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy. [PDF]

Epilepsia Open
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.
d'Orsi G, Costantino U, Di Claudio MT, Ferro CP, Palumbo P, Benvenuto M, Copetti M, D'Agruma L, Carella M, Castori M, Palumbo O.   +10 more
europepmc   +2 more sources

Takotsubo cardiomyopathy during armed conflict: A case series

ESC Heart Failure, Volume 12, Issue 2, Page 1494-1498, April 2025.
Sharon Bruoha, Artyom Star, Gili Givaty, Michael Shilo, Michael Friger, Vladimir Chitoroga, Hezzy Shmueli, Yigal Abramowitz, Elad Asher, Jamal Jafari, Vladimir Shlyakhover, Doron Zahger, Moti Haim, Chaim Yosefy   +13 more
wiley   +1 more source

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

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