A novel TSC2 mutation causing tuberless tuberous sclerosis

Seizure. 2014 Aug;23(7):580-2. doi: 10.1016/j.seizure.2014.04.001. Epub 2014 Apr 13.

Authors

Nadia Mariagrazia Giannantoni¹, Domenico Restuccia², Giacomo Della Marca², Rosa Maria Alfano³, Catello Vollono²

Affiliations

¹ Institute of Neurology, Unit of Neurophysiology and Sleep Medicine, Catholic University, Rome, Italy. Electronic address: [email protected].
² Institute of Neurology, Unit of Neurophysiology and Sleep Medicine, Catholic University, Rome, Italy.
³ Unit of Human Pathology, Department of Health Science San Paolo Hospital, Milan, Italy.

PMID: 24794161
DOI: 10.1016/j.seizure.2014.04.001

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Electroencephalography
Humans
Magnetic Resonance Imaging
Male
Mutation / genetics*
Tuberous Sclerosis / diagnosis
Tuberous Sclerosis / genetics*
Tuberous Sclerosis Complex 2 Protein
Tumor Suppressor Proteins / genetics*

Substances

TSC2 protein, human
Tuberous Sclerosis Complex 2 Protein
Tumor Suppressor Proteins