Medicine and Health Sciences Commons^™

Identification Of A Novel Synaptic Protein, Tmtc3, Involved In Periventricular Nodular Heterotopia With Intellectual Disability And Epilepsy, Sali M K Farhan, Kevin C J Nixon, Michelle Everest, Tara N Edwards, Shirley Long, Dmitri Segal, Maria J Knip, Heleen H Arts, Rana Chakrabarti, Jian Wang, John F Robinson, Donald Lee, Seyed M Mirsattari, C Anthony Rupar, Victoria M Siu, Forge Canada Consortium, Michael O Poulter, Robert A Hegele, Jamie M Kramer

Paediatrics Publications

Defects in neuronal migration cause brain malformations, which are associated with intellectual disability (ID) and epilepsy. Using exome sequencing, we identified compound heterozygous variants (p.Arg71His and p. Leu729ThrfsTer6) in TMTC3, encoding transmembrane and tetratricopeptide repeat containing 3, in four siblings with nocturnal seizures and ID. Three of the four siblings have periventricular nodular heterotopia (PVNH), a common brain malformation caused by failure of neurons to migrate from the ventricular zone to the cortex. Expression analysis using patient-derived cells confirmed reduced TMTC3 transcript levels and loss of the TMTC3 protein compared to parental and control cells. As TMTC3 function is currently …

Brain Networks In People After A First Unprovoked Seizure, Kristin M. Ikeda

Electronic Thesis and Dissertation Repository

Background: A single unprovoked seizure occurs in up to 10% of the population. Some develop epilepsy, but the majority do not. Brain network changes are observed in people with epilepsy, but it is unknown if they are present after this first seizure. This study examines network connectivity after the first seizure to determine if any changes exist.

Methods: Twelve patients after a single unprovoked seizure and twelve age- and sex-matched healthy controls were recruited. All underwent 7T resting-state fMRI scanning. Whole brain and limbic, default mode and salience network connectivity were analyzed with graph theory.

Results: Baseline characteristics were similar …

Transition From Paediatric To Adult Healthcare: Readiness And Experiences Of Canadian Adolescents And Young Adults Diagnosed With Epilepsy In Childhood, Alison S.B. Dasiewicz

Electronic Thesis and Dissertation Repository

Documenting the transition from paediatric to adult healthcare is important to guide the delivery of developmentally appropriate healthcare. The objectives of this research were to quantify the transition readiness of adolescents and young adults (AYAs) diagnosed with epilepsy in childhood, explore its association with individual and familial factors, and describe transfer/transition experiences for AYAs and parents. Families and physicians were followed for ten years as part of the Health-Related Quality of Life in Children with Epilepsy Study and provided report using questionnaires.

The distribution of transition readiness indicates much room for improvement. Age was the only factor significantly associated with …