Caitlin Bennett

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

Luca Gozzelino, Gaga Kochlamazashvili, Sara Baldassari, Albert Ian Mackintosh, Laura Licchetta, Emanuela Iovino, Yu Chi Liu, Caitlin A Bennett, Mark F Bennett, John A Damiano, Gabor Zsurka, Caterina Marconi, Tania Giangregorio, Pamela Magini, Marijn Kuijpers, Tanja Maritzen, Giuseppe Danilo Norata, Stephanie Baulac, Laura Canafoglia, Marco Seri, et al.

Journal article  |  2022  |  BRAIN

Epilepsy is one of the most frequent neurological diseases, with focal epilepsy accounting for the largest number of cases. The ge..

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

Ingrid E Scheffer, Caitlin A Bennett, Deepak Gill, Michelle G de Silva, Kirsten Boggs, Justine Marum, Naomi Baker, Elizabeth E Palmer, Katherine B Howell

Journal article  |  2022  |  DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

AIM: To assess the clinical utility of exome sequencing for patients with developmental and epileptic encephalopathies (DEEs). MET..

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions

Timothy E Green, Joshua E Motelow, Mark F Bennett, Zimeng Ye, Caitlin A Bennett, Nicole G Griffin, John A Damiano, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Paul J Lockhart, Lynette G Sadleir, Amber Boys, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Melanie Bahlo, David B Goldstein, John F Kerrigan, Erin L Heinzen, et al.

Journal article  |  2022  |  HUMAN MOLECULAR GENETICS

Hypothalamic hamartoma with gelastic seizures is a well-established cause of drug-resistant epilepsy in early life. The developmen..

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

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Journal article  |  2021  |  Am J Hum Genet

(The American Journal of Human Genetics 108, 965–982; June 3, 2021) In the original version of this paper, the following authors w..

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili, Michael Nothnagel, Patrick May, Holger Lerche

Journal article  |  2021  |  EBIOMEDICINE

BACKGROUND: Analyses of few gene-sets in epilepsy showed a potential to unravel key disease associations. We set out to investigat..

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Joshua E Motelow, Gundula Povysil, Ryan S Dhindsa, Kate E Stanley, Andrew S Allen, Yen-Chen Anne Feng, Daniel P Howrigan, Liam E Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M Neale, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic vari..

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Remi Stevelink, Jurjen J Luykx, Bochao D Lin, Costin Leu, Dennis Lal, Alexander W Smith, Dick Schijven, Johannes A Carpay, Koen Rademaker, Roiza A Rodrigues Baldez, Orrin Devinsky, Kees PJ Braun, Floor E Jansen, Dirk JA Smit, Bobby PC Koeleman

Journal article  |  2021  |  EPILEPSIA

OBJECTIVE: Paroxysmal epileptiform abnormalities on electroencephalography (EEG) are the hallmark of epilepsies, but it is uncerta..

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Henrike O Heyne, David Baez-Nieto, Sumaiya Iqbal, Duncan S Palmer, Andreas Brunklaus, Patrick May, Katrine M Johannesen, Stephan Lauxmann, Johannes R Lemke, Rikke S Moller, Eduardo Perez-Palma, Ute Scholl, Steffen Syrbe, Holger Lerche, Dennis Lal, Arthur J Campbell, Hao-Ran Wang, Jen Pan, Mark J Daly

Journal article  |  2020  |  SCIENCE TRANSLATIONAL MEDICINE

Malfunctions of voltage-gated sodium and calcium channels (encoded by SCNxA and CACNA1x family genes, respectively) have been asso..

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Lisa-Marie Niestroj, Eduardo Perez-Palma, Daniel P Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus, Peter Nuernberg, Remi Stevelink, Mark J Daly, Aarno Palotie, Dennis Lal

Journal article  |  2020  |  BRAIN

Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristi..

Polygenic burden in focal and generalized epilepsies

Costin Leu, Remi Stevelink, Alexander W Smith, Slavina B Goleva, Masahiro Kanai, Lisa Ferguson, Ciaran Campbell, Yoichiro Kamatani, Yukinori Okada, Sanjay M Sisodiya, Gianpiero L Cavalleri, Bobby PC Koeleman, Holger Lerche, Lara Jehi, Lea K Davis, Imad M Najm, Aarno Palotie, Mark J Daly, Robyn M Busch, Dennis Lal

Journal article  |  2019  |  BRAIN

Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The..