Idiopathic generalized epilepsy (IGE) comprises a group of epileptic disorders that are believed to have a strong underlying genetic basis. Myotonic dystrophy type 2 (DM2) is an adult onset muscular dystrophy with multisystem involvement caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3. There are clinical, neuropsychological and neuroimaging data showing central nervous system impairment in DM2 patients. An association of generalized epilepsy with DM2 has not yet been reported. We describe a 36-year-old male patient with a previous diagnosis of IGE and presenting a CCTG repeat expansion in the zinc finger protein 9 gene (ZNF9).
Generalized epilepsy in a patient with myotonic dystrophy type 2: A case report / Cagnetti C.; Buratti L.; Balestrini S.; Foschi N.; Logullo F.; Petrelli C.; Provinciali L.. - In: BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA. - ISSN 0394-560X. - ELETTRONICO. - (2013), pp. 125-127.
Generalized epilepsy in a patient with myotonic dystrophy type 2: A case report
Balestrini S.;
2013
Abstract
Idiopathic generalized epilepsy (IGE) comprises a group of epileptic disorders that are believed to have a strong underlying genetic basis. Myotonic dystrophy type 2 (DM2) is an adult onset muscular dystrophy with multisystem involvement caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3. There are clinical, neuropsychological and neuroimaging data showing central nervous system impairment in DM2 patients. An association of generalized epilepsy with DM2 has not yet been reported. We describe a 36-year-old male patient with a previous diagnosis of IGE and presenting a CCTG repeat expansion in the zinc finger protein 9 gene (ZNF9).
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