Myoclonic Epilepsy In Infancy

Etiologies: Unknown, considering genetic correlation (some are related to gene mutations such as TBC1D24), about one third of patients have a family history of febrile seizures or epilepsy [1-2].

Age of onset: onset of myoclonic seizures between the ages of 6 months and 3 years, and seizures usually remit within 6 months to 5 years from onset but generalized tonic-clonic seizures may be seen in teenage years in 10-20% of patients.

Seizure characteristics: Mainly myoclonic seizures, basically not accompanied by other seizure types, and some can be induced by flash (relatively difficult to control), hearing or touch (relatively easy to control) stimulation [2].

EEG: Interictal: basically normal. Ictal: Myoclonic jerks are associated with generalized spike-and-wave or polyspike-and-wave discharges.

Brain MRI: basically normal.

Developmental progress: It is basically normal, and some can be slightly abnormal (especially in patients with poor control).

Rreference

1. Falace, A., et al., TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.Am J Hum Genet, 2010. 87(3): p. 365-70.
2. Panayiotopoulos.  癫痫综合征及临床治疗.  北京 : 人民卫生出版社, 2012.