Amplitudes of motor evoked potential (% of M-response) during active conditions.

<p>Data are presented as the mean ± SEM.</p>a, b,<p>and^c indicate significant differences between the R FCR task and the R AD task, between the R FCR task and the R RF task, and between the R FCR task and the R TA task, respectively. Significance level was set at <i>P</i><0.05. RMT: resting motor threshold. R: right; AD: anterior deltoid; FCR: flexor carpi radialis; RF: rectus femoris; TA: tibialis anterior.</p

Short-interval intracortical inhibition (%, SICI) during active conditions.

<p>Data are presented as the mean ± SD.</p>a, b,<p>and^c indicate significant differences between the R FCR task and the R AD task, between the R FCR task and the R RF task, and between the R FCR task and the R TA task, respectively. Significance level was set at <i>P</i><0.05. R: right; AD: anterior deltoid; FCR: flexor carpi radialis; RF: rectus femoris; TA: tibialis anterior.</p

Increased corticospinal output and decreased intracortical inhibition of the left rectus femoris (L RF) muscle during unilateral motor task.

<p>(A) Recruitment curves of motor evoked potential (MEP) at rest and during four active conditions that were performed by muscles on the right side. The abscissa shows intensity of transcranial magnetic stimulus expressed relative to the resting motor threshold in each subject. The ordinate shows MEP amplitudes as a percentage of the M-responses collected via femoral nerve magnetic stimulation (M-response_FNMS). Data are presented as the mean ± standard error from all 15 subjects. (B) Ratio of short-interval intracortical inhibition (SICI) at rest and during four active conditions. The size of the conditioned MEP is expressed as a percentage of the amplitude of the test MEP (horizontal dotted line). Data are presented as the mean ± standard deviation from all 15 subjects. Asterisks indicate statistically significant differences from the rest condition (*<i>p</i><0.05) by repeated-measures ANOVA following a post hoc contrast test. R: right; AD: anterior deltoid; FCR: flexor carpi radialis; RF: rectus femoris; TA: tibialis anterior.</p

Overlap images for the tracked fibers of hand (A) and leg (B) areas for all subjects superimposed on the Montreal Neurological Institute 152 T1 brain in FSL.

<p>The fibers associated with the hand representations are shown in red; the fibers associated with the leg representations are shown in blue. The colour bars indicate the degree of overlap across subjects for each pathway. The sagittal coordinates (Y) are given in standard space (mm) and the image is displayed in the radiological convention.</p

Linkage of callosal motor fibers (CMFs) with functional changes in M1_ipsilateral representation during unilateral movement.

<p>The fractional anisotropy (FA) of the FCR CMFs is associated with the change of MEP at 1.6 times RMT in (A) right wrist flexion and in (B) right ankle dorsiflexion.</p

Recruitment curves in the left flexor carpi radialis (FCR).

<p>(A) The averaged MEPs recorded from a representative subject. (B) Group data (n = 15) during performance of different motor tasks with right side limbs. The abscissa shows intensity of transcranial magnetic stimulus (TMS) expressed relative to the resting motor threshold (RMT) in each subject. The ordinate shows MEP amplitudes as a percentage of the left FCR M-max. Group data are presented as the mean ± standard error. Arrows indicate delivery times of TMS. TA: tibialis anterior; R: right; L: left.</p

The <i>PRRT2</i> mutations identified in patients with paroxysmal kinesigenic dyskinesia with infantile convulsions in this study.

<p>The <i>PRRT2</i> heterozygous mutations, (A) c.272delC (p.P91Qfs*24), (B) c.595G>T (p.E199X), (C) c.604_607delTCAC (p.S202Hfs*16), (D) c.649_650insC (p.R217Pfs*8), (E) c.649del (p.R217Efs*12), (F) c.718C>T (p.R240X), and (G) c.922C>G (p.R308C) are shown by sequencing both the mutant and normal strands of the TA-subcloned PCR fragments.</p

Genetic and clinical features of the patients with PKD/IC harboring <i>PRRT2</i> mutations.

<p>Abbreviation: M  =  male; F  =  female; y  =  years; AS  =  apparently sporadic; SM  =  sudden movements; IM  =  intention to move; S  =  startle; s  =  stress; D  =  dystonia; C  =  choreoathetosis; CBZ  =  carbamazepine; m  =  month; w  =  week; PHT  =  phenytoin; OXC  =  oxcarbazepine; IC  =  infantile convulsions.</p>a<p>These patients have novel mutations.</p

Haplotype analyses of the patients carrying <i>PRRT2</i> p.R217Pfs*8 mutation.

<p>Five unrelated PKD/IC pedigrees carry the <i>PRRT2</i> p.R217Pfs*8. Patients 4 (A), 5 (B), 6 (C), 7 (D), and 8 (E) are indicated with arrows. Asterisks (*) depict the individuals who were haplotyped. The squares and circles denote males and females, and the close and open symbols represent affected and unaffected members, respectively. The grey symbols denote undetermined disease status. The <i>PRRT2</i> genotype is labeled below the symbols. The alleles with an unknown phase are labeled and separated with a slash. The haplotypes linked to the <i>PRRT2</i> p.R217Pfs*8 in the seven unrelated index patients are showed in (F). Five patients shared a common haplotype at loci rs9922666, rs7205278, rs4788186, rs7204252, and rs889695 linked to the <i>PRRT2</i> p.R217Pfs*8 (G-T-p.R217Pfs*8-A-T-T).</p