| Species | Homo sapiens |
| Alternate Name(s) | WSS, NFNS, VRNF |
| Epilepsy-Associated Disorder(s) | neurofibromatosis |
| Description | neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
| Chromosome | 17 |
| Locus | 17q11.2 |
| Reference(s) |
Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.Am J Hum Genet. 1993 Aug;53(2):305-13.
Geist RT, Gutmann DH. Expression of a developmentally-regulated neuron-specific isoform of the neurofibromatosis 1 (NF1) gene. Neurosci Lett. 1996 Jun 21;211(2):85-8. King A, Upadhyaya M, Penney C, Doshi R. A case of Miller-Dieker syndrome in a family with neurofibromatosis type I. Acta Neuropathol (Berl). 2000 Apr;99(4):425-7. Korf BR, Carrazana E, Holmes GL. Patterns of seizures observed in association with neurofibromatosis 1. Epilepsia. 1993 Jul-Aug;34(4):616-20. |