Results 41 to 50 of about 493 (108)

Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6

Animal Genetics, Volume 55, Issue 4, Page 612-620, August 2024.
Abstract Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative disorders that occur in humans, dogs, and several other species. NCL is characterised clinically by progressive deterioration of cognitive and motor function, epileptic seizures, and visual impairment.
Kim K. L. Bellamy, Fredrik S. Skedsmo, Josefin Hultman, Johan Høgset Jansen, Frode Lingaas   +4 more
wiley   +1 more source

Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications

Clinical Genetics, Volume 105, Issue 6, Page 639-654, June 2024.
The current study highlights the phenotypic and genotypic insights from 142 Indian families with epilepsy with or without comorbidities. We further study its implications on genetic counseling and therapy. Abstract The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights ...
Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan, Vivekananda Bhat, Shalini S. Nayak, Karthik Vijay Nair, Adarsh Pooradan Prasannakumar, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat, Shrikiran Aroor, Leslie Lewis, Jayashree Purkayastha, Y. Ramesh Bhat, B. K. Praveen, B. L. Yatheesha, Siddaramappa J. Patil, Sheela Nampoothiri, Nutan Kamath, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Suvasini Sharma, Anju Shukla   +31 more
wiley   +1 more source

Myoclonus: Differential diagnosis and current management

Epilepsia Open, Volume 9, Issue 2, Page 486-500, April 2024.
Abstract Myoclonus classically presents as a brief (10–50 ms duration), non‐rhythmic jerk movement. The etiology could vary considerably ranging from self‐limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need a prompt diagnosis. Beyond the etiological classification, others evaluate myoclonus' body
Antonella Riva, Gianluca D'Onofrio, Edoardo Ferlazzo, Angelo Pascarella, Elena Pasini, Silvana Franceschetti, Ferruccio Panzica, Laura Canafoglia, Aglaia Vignoli, Antonietta Coppola, Valeria Badioni, Francesca Beccaria, Angelo Labate, Antonio Gambardella, Antonino Romeo, Giuseppe Capovilla, Roberto Michelucci, Pasquale Striano, Vincenzo Belcastro   +18 more
wiley   +1 more source

A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

, 2020
An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1.
Freri E., Cali F., Amato C., Vetri L., Granata T., Solazzi R., Romano V., Vinci M., Roccella M., Elia M.   +9 more
core   +1 more source

Identification of a Novel homozygous Splice-Site Deletion in KCTD7 Gene Associated with Progressive Myoclonic Epilepsy

Objective: To study the Progressive myoclonic epilepsies (PME) that is genetic disorders resulting from mutations in different genes, all characterized by the early onset of myoclonic seizures, and cognitive decline. The Potassium Channel Tetramerization
Rose Jelani, Muhammad Imran Naseer, Fehmida Bibi, Peter Natesan Pushparaj, Osama Yousef Muthaffar, Shatha Alharazy   +5 more
core   +1 more source

Percentages of sequence identity and number of aligned residues of the BTB domains of selected KCTD members are reported on the right and left side of the diagonal, respectively.

, 2015
In addition to the proteins here characterized (KCTD6, KCTD11, KCTD12, and KCTD15), we included into the comparison representative members (KCTD5, KCTD7, KCTD13, BTBD10 and SHKBP1) of KCTD subgroups whose interaction with Cul3 has been experimentally ...
Luigi Vitagliano (204913), Luciano Pirone (718245), Emilia Maria Pedone (739223), Sonia Di Gaetano (166205), Giovanni Smaldone (739222), Nicole Balasco (683009)   +5 more
core   +1 more source

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses [PDF]

, 2018
BackgroundRolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, language, literacy and attention.
Kumudini Gomez, Silvia Cossu, William Sproviero, Sanjeev V Thomas, Cigdem I Akman, Akman, Cigdem I., David McCormick, Pal, Deb K.; id_orcid, Van Der Spek, Rick A., Addis, Laura, Maria Kinali, Deb K Pal, Siobhan Hannan, Laura Addis, Kinali, Maria, Gupta, Rajesh, Pruna, Dario, Gomez, Kumudini, Steven M Wolf, Roberto H Caraballo, Hughes, Elaine, Jacqueline Taylor, Thomas, Sanjeev V., Caraballo, Roberto H., Taylor, Jacqueline, David E Mandelbaum, Hannan, Siobhan, Stephen J Newhouse, Rajesh Gupta, Sproviero, William; id_orcid, Dario Pruna, McCormick, David, Wolf, Steven M., Newhouse, Stephen J.; id_orcid, Elaine Hughes, Rick A van der Spek, Mandelbaum, David E., Cossu, Silvia   +37 more
core   +1 more source

Supplementary Material for: Non Syndromic-Early Onset Epileptic Encephalopathies: Two novel KCTD7 pathogenic variants and a literature review

, 2021
Medicin
Binaafar S. (11360583), Garshasbi M. (11360586), Hosseiny S.M.M. (11360595), Samanta D. (11360598), Badv R.S. (11360592), Rabbani B. (11360601), Tavasoli A.R. (11360589), Mahdieh N. (11360604)   +7 more
core   +1 more source

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

, 2007
OBJECTIVE: We investigated a large consanguineous Moroccan family with progressive myoclonic epilepsy (PME) consistent with autosomal recessive inheritance, to describe the phenotype and identify the causal gene.
Désir, Julie, Abramowicz, Marc-Joel, Christiaens, Florence, Laes, Jean-François, Abramowicz, Marc, Aeby, Alec, De Meirleir, Linda, Azizieh, Naïm-Régis, Azizieh, Regis, Van Bogaert, Patrick   +9 more
core   +1 more source

Etude du gène KCTD7 associé à une épilepsie myoclonique progressive familiale

, 2012
Malgré l’avancée considérable des connaissances sur le génome humain, de nombreuses maladies génétiques restent mal comprises car nous ignorons encore quel gène porte la mutation responsable d’une pathologie spécifique.
Azizieh, Naïm-Régis
core