JOURNAL ARTICLE

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation

Lubov Blumkin, Arvid Suls, Tine Deconinck, Peter De Jonghe, Ilan Linder, Sara Kivity, Ron Dabby, Esther Leshinsky-Silver, Dorit Lev, Tally Lerman-Sagie
European Journal of Paediatric Neurology: EJPN 2012, 16 (4): 356-60
22169383

UNLABELLED: Mutations in the potassium channel gene KCNQ2, usually cause benign familial neonatal epilepsy. This is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have normal psychomotor development and spontaneous remission of seizures by 12 months of age. Since Rett and Teubel reported the first family in 1964 and the identification of KCNQ2 gene mutations in this family by Zimprich et al. in 2006, phenotypic variability has been recognized including: later onset of seizures, myokymia in isolation or accompanied by seizures, neurological deficit and mental retardation. We report a mother and son with an atypical presentation of familial neonatal epilepsy. The mother has persistent epilepsy and subnormal intelligence. The son developed a severe dyskinesia clinically compatible with multifocal myoclonus in the neonatal period that only responded to carbamazepine. He also has ataxia and delayed psychomotor development. EMG revealed a spontaneous occurrence of repetitive normal motor potentials in different muscle groups. Genetic analysis identified a heterozygous missense mutation in KCNQ2 in the child and his mother.

CONCLUSION: KCNQ2 mutations can present with a neonatal onset multifocal myoclonus-like dyskinesia.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read
22169383
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"