The coexistence of epilepsy and paroxysmal dyskinesia in the same individual or family had been described by Guerrini (2001), Guerrini et al., 2002), and others. Du et al. (2005) studied a large family with the combination of generalized ... The coexistence of epilepsy and paroxysmal dyskinesia in the same individual or family had been described by Guerrini (2001), Guerrini et al., 2002), and others. Du et al. (2005) studied a large family with the combination of generalized epilepsy and paroxysmal dyskinesia (GEPD). Among 16 affected individuals, 4 developed epileptic seizures, 7 paroxysmal nonkinesigenic dyskinesia, and 5 both. Interictal electroencephalography (EEG) showed generalized spike-wave complexes. Pedigree analysis suggested autosomal dominant inheritance.
Owing to the importance of ion channels in epilepsy and paroxysmal movement disorders, such as episodic ataxia (see 160120), Du et al. (2005) hypothesized that mutations in genes encoding ion channels might cause GEPD and identified 2 genes ... Owing to the importance of ion channels in epilepsy and paroxysmal movement disorders, such as episodic ataxia (see 160120), Du et al. (2005) hypothesized that mutations in genes encoding ion channels might cause GEPD and identified 2 genes encoding ion channels in the 8.4-cM region identified by linkage analysis: VDAC2 (193245), encoding voltage-dependent anion channel 2, and KCNMA1. No mutations were found in VDAC2. In KCNMA1, a heterozygous A-to-G transition in exon 10 was found in the proband of the family with GEPD (600150.0001).