Epilepsia, 42(Suppl.

3):3641, 2001
Blackwell Science, Inc.
International League Against Epilepsy

Idiopathic Epilepsy and Paroxysmal Dyskinesia

Renzo Guerrini
Neurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children, University College London,
London, U.K.

Summary: Although some motor manifestations of epilepsy

and of paroxysmal dyskinesia may be difficult to differentiate
clinically, the current understanding is that the two disorders
are clinically distinct. However, there are several recent reports
of families in which different individuals had either disorder or
both manifestations, with age-related expression. Cooccurrence makes it likely that a common, genetically determined, pathophysiologic abnormality is variably expressed in
the cerebral cortex and in basal ganglia. A rather homogeneous
syndrome of autosomal dominant infantile convulsions and
paroxysmal (dystonic) choreoathetosis (ICCA) was described
in six families from France, China and Japan. Linkage analysis
in the French and Chinese families allowed the mapping of the
disease gene in a 10-cM interval within the pericentromeric
region of chromosome 16. An Italian pedigree in which three
members in the same generation were affected by rolandic
epilepsy, paroxysmal exercise-induced dystonia (PED), and
writers cramp was subsequently reported. Linkage analysis
showed a common homozygous haplotype in a critical region

spanning 6 cM and entirely included within the ICCA critical

region. Clinical analogies and linkage findings suggest that the
same gene could be responsible for rolandic epilepsy, PED,
writers cramp (WC), and ICCA, with specific mutations accounting for each of these mendelian disorders. Evidence for a
major gene or a cluster of genes for epilepsy and paroxysmal
dyskinesia to the pericentromeric region of chromosome 16 is
reinforced by the recent linkage of a family with autosomal
dominant paroxysmal dyskinesia to a critical region partially
overlapping with ICCA and contiguous to the RE-PED-WC
regions. Additional autosomal dominant pedigrees are on record, from Australia and Italy, in which epilepsy was variably
associated with paroxysmal kinesigenic or exercise-induced
dystonia. Ion channel genes are potentially interesting candidates for syndromes featuring both these paroxysmal neurologic disorders. Increased awareness of their possible
co-occurrence will certainly increase the number of observations in the next few years. Key Words: Chromosome 16
EpilepsyParoxysmal dyskinesia.

Some motor manifestations of epilepsy and of paroxysmal dyskinesia (PD) may be difficult to differentiate
clinically. Although for this reason in the past, it has
been hypothesized that episodes of PD could represent a
form of epilepsy (13), the current understanding is that
the two disorders are clinically distinct (4). However,
they could share common pathophysiologic mechanisms,
as suggested by numerous reports of families in which
different individuals had either disorder, or the same individuals had both manifestations (512). Ion channel
gene defects have recently been demonstrated in some
genetic forms of epilepsies (1315), of paroxysmal
movement disorders (1618), and of other neurologic
disorders associating different paroxysmal manifestations (1921) with considerable clinical variability.
Moreover, different mutations in the same ion channel
gene (CACNL 1A4) cause two different paroxysmal
nonepileptic disorders in humans [episodic ataxia type 1
(20); and familial hemiplegic migraine (21)] and absence

seizures in the mouse mutant (22,23). It is, therefore,

highly probable that ion channel gene disorders could
provide the pathophysiological link for co-occurrence of
epilepsy and PD.
We review the current knowledge about the association of nonsymptomatic epilepsy and PD and analyze the
clinical and pathophysiologic features that must be considered in the differential diagnosis.
PAROXYSMAL DYSKINESIA
VERSUS EPILEPSY
Demirkiran and Jankovich (24) classified their patients with PD into three main categories: (a) kinesigenic
PDs (with attacks usually lasting <5 min); (b) exerciseinduced PDs (with attacks usually lasting >5 min); and
(c) nonkinesigenic PDs (with attacks usually lasting
hours).
Most sporadic and all familial cases of PD are idiopathic. The familial (dominant) form of nonkinesigenic
PD is linked to chromosome 2q (2527). Putaminal or
thalamic lesions have been demonstrated by using neuroimaging in some patients with sporadic PD (2830).

Address correspondence and reprint requests to Prof. R. Guerrini

at Neurosciences Unit, The Wolfson Centre, Mecklenburgh Square,
London, WC1N 2AP, U.K. E-mail: R. Guerrini@ich.ucl.ac.uk

36

IDIOPATHIC EPILEPSY AND PAROXYSMAL DYSKINESIA

Etiologies of symptomatic PD, accounting for a minority
of sporadic cases include infarctions (28,29), multiple
sclerosis (30,31), hypoxic encephalopathy (32); thyrotoxicosis (33), hypoparathyroidism (34), and diabetes
mellitus (35). Carbamazepine (CBZ) and phenytoin
(PHT) are often effective in controlling attacks at dosages producing the same plasma levels effective in epilepsy or at lower levels (4,36). Valproate (VPA) seems to
be less effective (36).
It has been argued that PDs, either kinesigenic or nonkinesigenic, may represent one expression of epilepsy
(3739), because of the paroxysmal character, the possible presence of prodromic aura-like symptoms, the
short duration of the attacks, and their response to antiepileptic drugs (AEDs). Most of the cases described as
movement-induced epileptic seizures by Lishman et al.
(1) had childhood-onset episodes of focal or generalized
stiffening followed by choreoathetotic movements, with
preserved consciousness. Whereas some of these patients
could have had paroxysmal kinesigenic choreoathetosis,
others had epileptiform EEG abnormalities and possibly
a form of reflex epilepsy akin to startle epilepsy. This
also is possible for the patients with spontaneous or
movement-induced paroxysmal dyskinetic attacks that
appeared after brain injury (40,41). In general, the presence of sustained twisting, athetotic, or choreic movements, lack of EEG abnormalities during attacks, lack of
episodes of unresponsiveness that would mean spread of
seizure activity outside the frontal lobes, all indicate a
nonepileptic origin (4).
Conversely, some ictal manifestations typical of frontal lobe seizures have often been misdiagnosed as due to
idiopathic PD (for review, see 42), because of their semiology (43) and of their frequent occurrence in patients
without any brain lesion and without any accompanying
ictal EEG changes (44). Lugaresi and Cirignotta (45)
introduced the term nocturnal PD when describing a
group of patients with frequent brief, sleep-related attacks characterized by predominantly dystonic movements. Lack of any ictal or interictal scalp EEG
abnormality has added to the difficulty in correctly diagnosing the nature of such episodes, as confirmed by
several subsequent reports (9,4648). Although it took
20 years from the first description by Lugaresi and
Cirignotta (45) before the paroxysmal dystonia-like nocturnal episodes were found to be accompanied by ictal
scalp EEG activity in a few patients (49), previous studies with depth electrodes had demonstrated that similar
attacks were actually the expression of seizure activity in
the mesial frontal lobe (46,50). Absence of ictal EEG
changes in the surface EEG is not surprising, considering
the mesial and deep location of the area of seizure origin
in these patients. Using both subdural strips and depth
electrodes, Lombroso (51) demonstrated that choreoathetosislike seizures may be accompanied by ictal activity in-

37

volving both the supplementary sensorimotor cortex and

the homolateral caudate nucleus. Although such a spread
might be particularly frequent because of the strong corticosubcortical connections existing between the supplementary sensorimotor cortex and the basal ganglia
(5254), its actual frequency and the respective role of
the cortical and subcortical structures in producing the
dyskinetia-like seizure pattern have yet to be determined.
Dystonic posturing also may occur during seizures
originating in the temporal lobe (55), during which it is
usually accompanied by additional, often prominent ictal
features such as unresponsiveness and automatisms, and
it is secondary to the spread of the ictal discharge to the
frontal and parietal cortex (56).
Startle-induced epileptic seizures may sometimes
mimic paroxysmal dyskinetic attacks. A sudden stimulus, either acoustic or somatosensorial, may trigger sudden dystonic posturing, or stiffening, which may involve
a body segment, a hemibody, or be generalized, often
without any obvious impairment of consciousness (57
59). Most patients with startle epilepsy have a brain lesion producing congenital hemiplegia, and in addition
have spontaneous seizures that may be similar to or different from the reflex-induced attacks. Ictal scalp EEG
activity may be difficult to recognize in those patients
whose attacks are characterized by diffuse stiffening,
which determines a great amount of scalp muscle activity
obscuring the concomitant ictal discharge. In this type of
seizure, depth-electrode studies have demonstrated that
seizure activity involves the supplementary motor area or
the primary motor cortex (58). The following sequence
has been hypothesized (60): surprise stimulation
startle reaction afferent proprioceptive volley seizure. The initial startle response and the subsequent motor seizure may produce a bizarre paroxysmal dystonic
posturing.
TRUE ASSOCIATION OF EPILEPSY AND
PAROXYSMAL DYSKINESIA
Co-occurrence of epilepsy and PD in the same individual or their familial aggregation is not infrequent (5,
6,11,12,36,61,62). Both paroxysmal nonkinesigenic (or
dystonic) choreoathetosis (5,11,12,38,62) and paroxysmal exercise-induced dystonia (PED) (6,61) have been
described in patients who also have epilepsy. However, a
clear association of epilepsy and PD within a definite
syndrome with mendelian inheritance has so far been
observed in only a few families (Table 1). Szepetowski et
al. (7) described four families from the north of France
showing a homogeneous syndrome of familial infantile
convulsions, expressed as an autosomal dominant trait,
together with variably expressed paroxysmal (dystonic)
choreoathetosis (ICCA) (7). Of the 29 affected members
of the four ICCA families described by Szepetowski et
Epilepsia, Vol. 42, Suppl. 3, 2001

38

R. GUERRINI
TABLE 1. Syndromes in which epilepsy and paroxysmal dyskinesia co-occur or in which either disorder is associated with
other paroxysmal neurologic manifestations
Epilepsy and other paroxysmal
neurologic manifestations

PD with other paroxysmal

neurologic manifestations

Autosomal dominant paroxysmal (dystonic)

choreoathetosis and benign infantile
convulsions (7*, 10, 63*)
*Linkage: chromosome 16, pericentromeric

Episodic ataxia type 1 and infantile

convulsions (72)
Gene: potassium channel KCNA1

Autosomal dominant paroxysmal choreoathetosis

and episodic ataxia (64)
Linkage: chromosome 1p

Autosomal recessive RE with PED and

WC (8)
Linkage: chromosome 16p12-11.2

Familial hemiplegic migraine and

seizures (73)
Linkage: chromosome 1p31

Autosomal dominant paroxysmal dystonic

choreoathetosis with classic migraine (27)
Linkage: chromosome 2q

Autosomal dominant kinesigenic PD, migraine,

hemiplegic migraine, and generalized
epilepsy with febrile seizures (68)

Familial hemiplegic migraine and

benign infantile convulsions (74)

Autosomal dominant PED and migraine (75)

Autosomal dominant PED and epilepsy (69)

Benign infantile convulsions,

idiopathic generalized epilepsy,
episodic ataxia, migraine (68)

Epilepsy and PD

PD, paroxysmal dyskinesia; PED, paroxysmal exercise-induced dystonia; RE, rolandic epilepsy; WC, writers cramp.

al. (7), 22 had infantile partial seizures, almost always

with early motor signs and beginning between the fourth
and tenth months of life; 12 of those with seizures as well
as three others had dyskinetic attacks starting in childhood or early adolescence, which were exercise induced
in six. Although epileptic seizures were limited to infancy, it remains to be clarified whether the dyskinetic
attacks were likewise age related. Linkage analysis performed under the assumption of an autosomal dominant
pattern of inheritance, with a penetration of 0.81, allowed
the mapping of the disease gene to the pericentromeric
region of chromosome 16, in a 10-cM interval, between
D16S401 and D16S517. Lee et al. (63) confirmed both
the syndrome and linkage to the same chromosomal region in a Chinese family in which nine members in three
generations were affected. A different phenotypic expression of the disorder was represented in the Chinese
pedigree by seizure recurrence at a later age, by predominantly generalized rather than partial seizures, by episodes of status epilepticus in some individuals, and by a
very mild expression and duration of dyskinetic attacks.
PHT was reported to be effective in stopping both dyskinetic episodes and seizures, which, in any case, disappeared by the age of 2030 years. Linkage analysis
confirmed not only gene assignment to the pericentromeric region of chromosome 16 but also the finding that
individuals carrying the disease haplotype in the critical
region may be clinically unaffected (7).
Sadamatsu et al. (10) described a pedigree in which
five members in three consecutive generations were affected by a form of paroxysmal kinesigenic choreoathetosis with attacks precipitated by sudden movement or
exercise. Attacks had started during school age in all
individuals and had disappeared or were greatly reduced
in frequency in the three patients reaching adulthood.
Four of the five affected patients had generalized convulsions during infancy with no recurrence at a later age
Epilepsia, Vol. 42, Suppl. 3, 2001

with or without treatment in most of them. The authors

stressed that video-EEG monitoring during dyskinetic
attacks in two patients showed no EEG changes, consistent with nonepileptic origin, adding to the evidence that
epilepsy and PD are distinct manifestations. To reinforce
this observation, they ruled out genetic linkage with five
known chromosomal regions previously linked to epilepsy or movement disorders [1p (64), 2q33-35 (25,26),
6p21.2-11 (65), and 10q23.3-q24). They did not realize,
however, that they were describing a syndrome identical
to ICCA.
In addition to familial observations, two sporadic patients with clinical features and outcome identical to the
ICCA syndrome are on record (66,67).
Singh et al. (68) described an Australian family of
Anglo-Saxon origin in which nine members in three generations had epilepsy (febrile seizures and febrile seizures plus), kinesigenic PD, migraine, and hemiplegic
migraine, in various combinations (febrile seizures and
kinesigenic PD co-occurred in two patients).
Perniola et al. (69) reported an Italian family, with six
affected individuals in three generations, exhibiting a
syndrome characterized by long-duration PED attacks
beginning between ages 5 and 10 years and disappearing
between ages 18 and 30 years, accompanied by different
seizure types: absences during school age in three
patients; complex partial seizures in adolescence and
adulthood in one patient; and generalized tonicclonic
beginning after 10 years and with uncertain evolution in
two other patients. Additional findings were myotonic
discharges in one patient and mild mental retardation in
three.
A pedigree in which three members in the same generation were affected by rolandic epilepsy (RE), PED,
and writers cramp (WC) was recently reported (8). Both
the seizures and PD had a strong age-related expression
that peaked during childhood, whereas the WC, also ap-

IDIOPATHIC EPILEPSY AND PAROXYSMAL DYSKINESIA

pearing in childhood, had been stable since diagnosis.
Clonazepam (CZP) had some efficacy in reducing PED
attacks in one patient, whereas acetazolamide (AZM)
had no significant effect. Genome-wide linkage analysis
carried out under the assumption of recessive inheritance
identified a common homozygous haplotype in a critical
region spanning 6 cM between markers D16S3133 and
D16S3131 on chromosome 16, cosegregating with the
affected phenotype and producing a multipoint log of the
odds (LOD) score value of 3.2. Although the REPED
WC syndrome has unique features, it presents striking
analogies with the ICCA syndrome, linked to a 10-cM
region between D16S401 and D16S517, which entirely
includes the 6 cM of the REPEDWC critical region.
The same gene could be responsible for both REPED
WC and ICCA, with specific mutations accounting for
each of these mendelian disorders. A similar finding has
been reported for the chloride channel 1 gene (CLCN1),
whose mutations are found in Becker and Thomsen diseases, both associated with generalized myotonia.
Becker disease is transmitted through an autosomal recessive pattern of inheritance, whereas Thomsen disease
is transmitted in an autosomal dominant fashion (70).
Bennett et al. (71) recently linked to chromosome
16p11.2-q11.2 an African-American family with paroxysmal kinesigenic dyskinesia (PKD). The critical regions
for PKD and for ICCA partially overlap by 6 cM between D16S769 and D16S517. Different mutations of
the same gene or two distinct genes may underlie these
disorders. PKD and REPEDWC critical regions are
contiguous but nonoverlapping, because D16S3133 (representing the REPEDWC lower boundary) and
D16S769 (the PKD upper boundary) map at no recombination. However, these mapping data indicate the presence of one or more gene(s) responsible for these forms.
Considering the adjacent but distinct critical regions of
PKD and REPEDWC and the overlapping ICCA, a
duplication or a gene family, including different members accounting for different diseases, could span this
chromosomal region. Ion-channel genes are potential
candidates for syndromes featuring both epilepsy and
PD, as well as other syndromes in which either epilepsy
or PD occurs in association with other paroxysmal neurologic manifestations (Table 1).
Clinical and neurophysiologic abnormalities producing the epilepsy/PD syndromes are possibly caused by
disturbances involving the basal ganglia as well as the
motor cortex. It also appears that when defining the syndromic spectrum of genetically determined epilepsy and
PD, as well as other paroxysmal neurologic disorders,
one must make sure that general concepts of idiopathic/
benign transient disorders are satisfied rather than expecting a strictly age-related expression. For example,
variable phenotypic expressions of epilepsy were observed in association with mutation of the SCN1B gene

39

(13), and variable age at onset of convulsions was present in the family with benign neonatal (extending to
infancy) convulsions showing the KCNQ2 mutation
(14). Different mutations of the disease gene, the existence of modifier gene(s), and the influence of environmental factors may account for intrafamilial and
interfamilial phenotypic variability. The transient expression of these paroxysmal phenomena has certainly
caused their association to be underrecognized. Increased
awareness of their possible co-occurrence in the same
patient, either in the same period of life or at different
ages, will certainly increase the number of observations
in the next few years.
The association of epilepsy and PD seems to be underrecognized, and only recently, because of a better
knowledge of the two disorders and widespread use of
video-EEG techniques, has their co-occurrence been better assessed.
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Epilepsia, Vol. 42, Suppl. 3, 2001