Catherine L. Salussolia

Catherine L. Salussolia, MD, PhD

Attending, Epilepsy Center, Boston Children's Hospital; Instructor of Neurology, Harvard Medical School

Research Focus

Tuberous Sclerosis Associated Epilepsy, Epilepsy Genetics

Brief Research Description

Epilepsy is frequently caused by genetic factors that alter synaptic networks at the molecular level during critical periods of neural development, leading to an imbalance of excitatory and inhibitory (E/I) neurotransmission. Tuberous sclerosis complex (TSC) is an autosomal dominant disorder due to a mutation in either TSC1 or TSC2. Approximately 75-90% of individuals with TSC develop epilepsy within the first year of life with almost all having co-morbid developmental delay. Loss of function variants in either TSC1 or TSC2 result in epilepsy, but patients with TSC2 variants typically have more severe and medically refractory epilepsy. My research is focused on understanding the developmental and molecular mechanisms mediating TSC-associated epilepsy in an effort to identify new targeted therapies and improve the neurodevelopmental morbidity of TSC.

Key Publications (PMCIDs)

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M
Annu Rev Genomics Hum Genet. 2019 Aug 31;20:217-240. doi: 10.1146/annurev-genom-083118-015354. Epub 2019 Apr 24.PMID: 31018109 Review.

Treatment-Resistant Epilepsy and Tuberous Sclerosis Complex: Treatment, Maintenance, and Future Directions.
Singh A, Hadjinicolaou A, Peters JM, Salussolia CL.
Neuropsychiatr Dis Treat. 2023 Apr 5;19:733-748. doi: 10.2147/NDT.S347327. eCollection 2023.PMID: 37041855

Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts.
Dalal JS, Winden KD, Salussolia CL, Sundberg M, Singh A, Pham TT, Zhou P, Pu WT, Miller MT, Sahin M
Elife. 2021 Jul 14;10:e67399. doi: 10.7554/eLife.67399.PMID: 34259631

Translating Ribosome Affinity Purification (TRAP) of Cell Type-specific mRNA from Mouse Brain Lysates.
Salussolia CL, Winden KD, Sahin M.
Bio Protoc. 2022 May 5;12(9):e4407. doi: 10.21769/BioProtoc.4407. eCollection 2022 May 5.PMID: 35800463

Divergent roles of a peripheral transmembrane segment in AMPA and NMDA receptors.
Amin JB, Salussolia CL, Chan K, Regan MC, Dai J, Zhou HX, Furukawa H, Bowen ME, Wollmuth LP.J
J Gen Physiol. 2017 Jun 5;149(6):661-680. doi: 10.1085/jgp.201711762. Epub 2017 May 15.PMID: 28507080

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