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Familial Progressive Myoclonic Epilepsy

MedGen UID:
155922
•Concept ID:
C0751777
•
Disease or Syndrome

Professional guidelines

PubMed

Differential diagnosis of familial adult myoclonic epilepsy.
Baykan B, Franceschetti S, Canafoglia L, Cavalleri GL, Michelucci R, Scheffer IE
Epilepsia 2023 Jun;64 Suppl 1:S52-S57. Epub 2023 Feb 21 doi: 10.1111/epi.17536. PMID: 36751956
Drug Treatment of Progressive Myoclonic Epilepsy.
Holmes GL
Paediatr Drugs 2020 Apr;22(2):149-164. doi: 10.1007/s40272-019-00378-y. PMID: 31939107Free PMC Article
Management of epilepsy in MERRF syndrome.
Finsterer J, Zarrouk-Mahjoub S
Seizure 2017 Aug;50:166-170. Epub 2017 Jun 24 doi: 10.1016/j.seizure.2017.06.010. PMID: 28686997

Recent clinical studies

Etiology

Familial progressive myoclonic epilepsy. A clinical, genetical, biochemical and patho-anatomical study of a family with a 6-year follow-up.
Pedersen E, Grynderup V, Kissmeyer-Nielsen F, Nielsen J, Poulsen JH, Reske-Nielsen E
J Neurol Sci 1982 Feb;53(2):305-20. doi: 10.1016/0022-510x(82)90015-6. PMID: 6276514

Diagnosis

Reversible cortical atrophy and cognitive decline induced by valproic acid.
Straussberg R, Kivity S, Weitz R, Harel L, Gadoth N
Eur J Paediatr Neurol 1998;2(4):213-8. doi: 10.1016/s1090-3798(98)80022-6. PMID: 10726594

Therapy

Reversible cortical atrophy and cognitive decline induced by valproic acid.
Straussberg R, Kivity S, Weitz R, Harel L, Gadoth N
Eur J Paediatr Neurol 1998;2(4):213-8. doi: 10.1016/s1090-3798(98)80022-6. PMID: 10726594

Prognosis

Familial progressive myoclonic epilepsy. A clinical, genetical, biochemical and patho-anatomical study of a family with a 6-year follow-up.
Pedersen E, Grynderup V, Kissmeyer-Nielsen F, Nielsen J, Poulsen JH, Reske-Nielsen E
J Neurol Sci 1982 Feb;53(2):305-20. doi: 10.1016/0022-510x(82)90015-6. PMID: 6276514

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