Abstract
Tuberous sclerosis complex (TSC) is a congenital syndrome characterized by the widespread development of benign tumors in multiple organs, caused by mutations in one of the tumor suppressor genes, TSC1 or TSC2. About 80% of affected patients have a new mutation, and the remaining 20% have inherited a TSC gene mutation from a parent. The disorder affects approximately 1 in 6000 individuals. Cortical tubers are the neuropathological hallmark of TSC. The most common neurological manifestations of TSC are epilepsy, mental retardation, and autistic behavior. Epilepsy occurs in up to 80-90% of patients and is often intractable, with a poor response to anticonvulsant medications. While the molecular basis of TSC is well established, far less is known about the mechanisms of epilepsy in this disorder. In this article, we first summarize known clinical aspects of TSC with emphasis on its neurological features. Then, based on the molecular, pathological, immunohistochemical, neurochemical, and physiological properties of tubers in patients with TSC and in animal models, we discuss possible mechanisms of seizures and epileptogenesis in TSC. Finally, we provide an updated literature review and a consensus statement from the Tuberous Sclerosis Complex Working Group for future research into the mechanisms of epilepsy in TSC.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 617-630 |
| Number of pages | 14 |
| Journal | Epilepsia |
| Volume | 48 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 2007 |
| Externally published | Yes |
Fingerprint
Keywords
- Epilepsy
- Epileptogenesis
- Tuber
- Tuberous sclerosis complex
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
Cite this
Tuberous sclerosis complex and epilepsy : Recent developments and future challenges. / Holmes, Gregory L.; Stafstrom, Carl; Baraban, Scott C.; Bertram, Edward; Bolton, Patrick; Brooks-Kayal, Amy; Chugani, Harry T.; Coulter, Douglas; Crino, Peter; Delanerolle, Nihal C.; Devinsky, Orrin; Jacobs, Margaret; Jensen, Frances E.; Kapur, Jaideep; Khazipov, Rustem; Kirchstein, Timo; Lonsdale, John; Mathern, Gary; Riviello, James; Sahin, Mustafa; Sands, Tristan; Sankar, Raman; Schauwecker, Paula; Staley, Kevin; Talos, Delia; Thiele, Elizabeth; Taylor, Nancy; Dunigan, Cheryl; Whittemore, Vicky H.
In: Epilepsia, Vol. 48, No. 4, 04.2007, p. 617-630.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Tuberous sclerosis complex and epilepsy
T2 - Recent developments and future challenges
AU - Holmes, Gregory L.
AU - Stafstrom, Carl
AU - Baraban, Scott C.
AU - Bertram, Edward
AU - Bolton, Patrick
AU - Brooks-Kayal, Amy
AU - Chugani, Harry T.
AU - Coulter, Douglas
AU - Crino, Peter
AU - Delanerolle, Nihal C.
AU - Devinsky, Orrin
AU - Jacobs, Margaret
AU - Jensen, Frances E.
AU - Kapur, Jaideep
AU - Khazipov, Rustem
AU - Kirchstein, Timo
AU - Lonsdale, John
AU - Mathern, Gary
AU - Riviello, James
AU - Sahin, Mustafa
AU - Sands, Tristan
AU - Sankar, Raman
AU - Schauwecker, Paula
AU - Staley, Kevin
AU - Talos, Delia
AU - Thiele, Elizabeth
AU - Taylor, Nancy
AU - Dunigan, Cheryl
AU - Whittemore, Vicky H.
PY - 2007/4
Y1 - 2007/4
N2 - Tuberous sclerosis complex (TSC) is a congenital syndrome characterized by the widespread development of benign tumors in multiple organs, caused by mutations in one of the tumor suppressor genes, TSC1 or TSC2. About 80% of affected patients have a new mutation, and the remaining 20% have inherited a TSC gene mutation from a parent. The disorder affects approximately 1 in 6000 individuals. Cortical tubers are the neuropathological hallmark of TSC. The most common neurological manifestations of TSC are epilepsy, mental retardation, and autistic behavior. Epilepsy occurs in up to 80-90% of patients and is often intractable, with a poor response to anticonvulsant medications. While the molecular basis of TSC is well established, far less is known about the mechanisms of epilepsy in this disorder. In this article, we first summarize known clinical aspects of TSC with emphasis on its neurological features. Then, based on the molecular, pathological, immunohistochemical, neurochemical, and physiological properties of tubers in patients with TSC and in animal models, we discuss possible mechanisms of seizures and epileptogenesis in TSC. Finally, we provide an updated literature review and a consensus statement from the Tuberous Sclerosis Complex Working Group for future research into the mechanisms of epilepsy in TSC.
AB - Tuberous sclerosis complex (TSC) is a congenital syndrome characterized by the widespread development of benign tumors in multiple organs, caused by mutations in one of the tumor suppressor genes, TSC1 or TSC2. About 80% of affected patients have a new mutation, and the remaining 20% have inherited a TSC gene mutation from a parent. The disorder affects approximately 1 in 6000 individuals. Cortical tubers are the neuropathological hallmark of TSC. The most common neurological manifestations of TSC are epilepsy, mental retardation, and autistic behavior. Epilepsy occurs in up to 80-90% of patients and is often intractable, with a poor response to anticonvulsant medications. While the molecular basis of TSC is well established, far less is known about the mechanisms of epilepsy in this disorder. In this article, we first summarize known clinical aspects of TSC with emphasis on its neurological features. Then, based on the molecular, pathological, immunohistochemical, neurochemical, and physiological properties of tubers in patients with TSC and in animal models, we discuss possible mechanisms of seizures and epileptogenesis in TSC. Finally, we provide an updated literature review and a consensus statement from the Tuberous Sclerosis Complex Working Group for future research into the mechanisms of epilepsy in TSC.
KW - Epilepsy
KW - Epileptogenesis
KW - Tuber
KW - Tuberous sclerosis complex
UR - http://www.scopus.com/inward/record.url?scp=34247164656&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34247164656&partnerID=8YFLogxK
U2 - 10.1111/j.1528-1167.2007.01035.x
DO - 10.1111/j.1528-1167.2007.01035.x
M3 - Article
VL - 48
SP - 617
EP - 630
JO - Epilepsia
JF - Epilepsia
SN - 0013-9580
IS - 4
ER -