Results 201 to 210 of about 1,540,335 (330)

Missense-Mutation [PDF]

, 2018
openaire   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity. [PDF]

Proc Natl Acad Sci U S A
Riahi Z, Boucher S, Abdi S, Wong Jun Tai F, Singh-Estivalet A, Aghaie A, Niasme-Grare M, Hardelin JP, Behlouli A, Dahmani M, Talbi S, Bouyacoub Y, Mkaouar R, Charfeddine C, Amalou G, Bakhchane A, Bousfiha A, Salime S, Elrharchi S, Salame M, Hadrami M, Boussaty E, Charoute H, Detsouli M, Snoussi K, Rouba H, Hachmi HE, Veten F, Meiloud G, Marrakchi J, Zainine R, Chahed H, Besbes G, Trabelsi M, Mrad R, Kraoua I, Ouhab S, Djennaoui D, Boudjenah F, Chouery E, Mustapha M, Houmeida A, Barakat A, Khodja FA, Makrelouf M, Zenati A, Beltaief N, Abdelhak S, Petit C, Bonnet C.   +49 more
europepmc   +1 more source

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction

Epilepsia Open, EarlyView.
Abstract Objective Variants in KCNQ2 encoding the voltage‐gated potassium channel KV7.2 are associated with developmental and epileptic encephalopathy (DEE) of varying severity. This study examined the relationship of KCNQ2 variant dysfunction with the neurodevelopmental phenotype of individuals with KCNQ2‐DEE. Methods A parent‐reported survey gathered
Jessa S. Bidwell, Carlos G. Vanoye, Reshma R. Desai, Anne T. Berg, Alfred L. George Jr   +4 more
wiley   +1 more source

Successful kidney transplantation in a patient with late-onset type II Bartter syndrome: A rare case report. [PDF]

Clin Nephrol Case Stud
Baligeri K, Shankar M, Sampath Kumar D, C Gurusiddiah S.   +3 more
europepmc   +1 more source

A novel missense-mutation-related feature extraction scheme for 'driver' mutation identification

Bioinform., 2012
Hua Tan, Jiguang Bao, Xiaobo Zhou
semanticscholar   +1 more source

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

FGF10/IGSF3 Variants in Bony Congenital Nasolacrimal Duct Obstruction: A Genotype-Phenotype Study of Syndromic Versus Isolated Disease. [PDF]

Invest Ophthalmol Vis Sci
Li Y, Feng ZX, Cui Y, Sun J, Liu W, Xiao X, Quan X, Zhang C, Li L.   +8 more
europepmc   +1 more source

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, EarlyView.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source

Gain of function p53 mutant R273H confers distinct methylation profiles and consequent YAP/TAZ signaling mediated activation of partial or full EMT states to colon tumours. [PDF]

Epigenetics Chromatin
Rani H, Subhadarshini S, Jolly MK, Mahadevan V.   +3 more
europepmc   +1 more source