Kate Esnault

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy

John A Damiano, Saul A Mullen, Michael S Hildebrand, Susannah T Bellows, Kate M Lawrence, Todor Arsov, Leanne Dibbens, Heather Major, Hans-Henrik M Dahl, Heather C Mefford, Benjamin W Darbro, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2015  |  EPILEPSY RESEARCH

The chromosome 15q13.3 region has been implicated in epilepsy, intellectual disability and neuropsychiatric disorders, especially ..

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Michael S Hildebrand, Rick Tankard, Elena V Gazina, John A Damiano, Kate M Lawrence, Hans-Henrik M Dahl, Brigid M Regan, Aiden Eliot Shearer, Richard JH Smith, Carla Marini, Renzo Guerrini, Angelo Labate, Antonio Gambardella, Paolo Tinuper, Laura Lichetta, Sara Baldassari, Francesca Bisulli, Tommaso Pippucci, Ingrid E Scheffer, Christopher A Reid, et al.

Journal article  |  2015  |  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

OBJECTIVE: Nocturnal frontal lobe epilepsy (NFLE) can be sporadic or autosomal dominant; some families have nicotinic acetylcholin..

Weight and fat distribution in patients taking valproate: A valproate-discordant gender-matched twin and sibling pair study

Sandra J Petty, Susan Kantor, Kate M Lawrence, Samuel F Berkovic, Marnie Collins, Keith D Hill, Joanna Makovey, Philip N Sambrook, Terence J O'Brien, John D Wark

Journal article  |  2014  |  EPILEPSIA

OBJECTIVES: Chronic treatment with valproate (VPA) is commonly associated with weight gain, which potentially has important health..

Genetics of epilepsy The testimony of twins in the molecular era

Lata Vadlamudi, Roger L Milne, Kate Lawrence, Sarah E Heron, Jazmin Eckhaus, Deborah Keay, Mary Connellan, Yvonne Torn-Broers, R Anne Howell, John C Mulley, Ingrid E Scheffer, Leanne M Dibbens, John L Hopper, Samuel F Berkovic

Journal article  |  2014  |  NEUROLOGY

OBJECTIVE: Analysis of twins with epilepsy to explore the genetic architecture of specific epilepsies, to evaluate the applicabili..

Genetics of febrile seizure subtypes and syndromes: A twin study

Jazmin Eckhaus, Kate M Lawrence, Ingo Helbig, Minh Bui, Lata Vadlamudi, John L Hopper, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2013  |  EPILEPSY RESEARCH

PURPOSE: Febrile seizures (FS) are the most common seizure syndrome. A strong genetic component has been well established through ..

Autosomal dominant vasovagal syncope Clinical features and linkage to chromosome 15q26

Karl Martin Klein, Catherine J Bromhead, Katherine R Smith, Christopher J O'Callaghan, Susan J Corcoran, Sarah E Heron, Xenia Iona, Bree L Hodgson, Jacinta M McMahon, Kate M Lawrence, Ingrid E Scheffer, Leanne M Dibbens, Melanie Bahlo, Samuel F Berkovic

Journal article  |  2013  |  NEUROLOGY

OBJECTIVE: To establish the occurrence of an autosomal dominant form of vasovagal syncope (VVS) by detailed phenotyping of multipl..

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

Todor Arsov, Saul A Mullen, John A Damiano, Kate M Lawrence, Linda L Huh, Melinda Nolan, Helen Young, Anais Thouin, Hans-Henrik M Dahl, Samuel F Berkovic, Douglas E Crompton, Lynette G Sadleir, Ingrid E Scheffer

Journal article  |  2012  |  EPILEPSIA

Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized ..

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

Todor Arsov, Saul A Mullen, Sue Rogers, A Marie Phillips, Kate M Lawrence, John A Damiano, Hadassa Goldberg-Stern, Zaid Afawi, Sara Kivity, Chantal Trager, Steven Petrou, Samuel F Berkovic, Ingrid E Scheffer

Journal article  |  2012  |  ANNALS OF NEUROLOGY

OBJECTIVE: We examined whether glucose transporter 1 (GLUT1) deficiency causes common idiopathic generalized epilepsies (IGEs). ME..

Evidence for genetic factors in vasovagal syncope A twin-family study

Karl Martin Klein, San San Xu, Kate Lawrence, Alexandra Fischer, Samuel F Berkovic

Journal article  |  2012  |  NEUROLOGY

OBJECTIVE: Vasovagal syncope (VVS) is the most frequent type of syncope and a common differential diagnosis of epilepsy. The role ..

Familial Adult Myoclonic Epilepsy Recognition of Mild Phenotypes and Refinement of the 2q Locus

Douglas E Crompton, Lynette G Sadleir, Catherine J Bromhead, Melanie Bahlo, Susannah T Bellows, Todor Arsov, Rosemary Harty, Kate M Lawrence, John W Dunne, Samuel F Berkovic, Ingrid E Scheffer

Journal article  |  2012  |  ARCHIVES OF NEUROLOGY

BACKGROUND: Familial adult myoclonic epilepsy (FAME) is an autosomal dominant syndrome characterized by a core triad of cortical t..