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MERFF syndrome

MedGen UID:
865062
Concept ID:
C4016625
Finding
Synonym: MERFF SYNDROME
 
OMIM®: 590075

Recent clinical studies

Etiology

Filosto M, Cotti Piccinelli S, Lamperti C, Mongini T, Servidei S, Musumeci O, Tonin P, Santorelli FM, Simoncini C, Primiano G, Vercelli L, Rubegni A, Galvagni A, Moggio M, Comi GP, Carelli V, Toscano A, Padovani A, Siciliano G, Mancuso M
J Neurol 2019 Apr;266(4):953-959. Epub 2019 Feb 2 doi: 10.1007/s00415-019-09219-x. PMID: 30710167
Tranchant C, Anheim M
Rev Neurol (Paris) 2016 Aug-Sep;172(8-9):524-529. Epub 2016 Jul 28 doi: 10.1016/j.neurol.2016.07.003. PMID: 27476418
Delgado-Escueta AV, Serratosa JM, Liu A, Weissbecker K, Medina MT, Gee M, Treiman LJ, Sparkes RS
Epilepsia 1994;35 Suppl 1:S29-40. doi: 10.1111/j.1528-1157.1994.tb05926.x. PMID: 8293722

Diagnosis

Dupuis H, Lemaitre M, Jannin A, Douillard C, Espiard S, Vantyghem MC
Ann Endocrinol (Paris) 2024 Jun;85(3):231-247. Epub 2024 Jun 12 doi: 10.1016/j.ando.2024.05.003. PMID: 38871514
Tranchant C, Anheim M
Rev Neurol (Paris) 2016 Aug-Sep;172(8-9):524-529. Epub 2016 Jul 28 doi: 10.1016/j.neurol.2016.07.003. PMID: 27476418
Ebner R
Curr Opin Ophthalmol 1994 Dec;5(6):23-8. PMID: 10150825

Therapy

Lim A, Thomas RH
Eur J Paediatr Neurol 2020 Jan;24:47-52. Epub 2020 Jan 7 doi: 10.1016/j.ejpn.2019.12.021. PMID: 31973983

Prognosis

Ebner R
Curr Opin Ophthalmol 1994 Dec;5(6):23-8. PMID: 10150825

Clinical prediction guides

Filosto M, Cotti Piccinelli S, Lamperti C, Mongini T, Servidei S, Musumeci O, Tonin P, Santorelli FM, Simoncini C, Primiano G, Vercelli L, Rubegni A, Galvagni A, Moggio M, Comi GP, Carelli V, Toscano A, Padovani A, Siciliano G, Mancuso M
J Neurol 2019 Apr;266(4):953-959. Epub 2019 Feb 2 doi: 10.1007/s00415-019-09219-x. PMID: 30710167

Supplemental Content