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PubMed2001

Ion channels and epilepsy.

Ion channels provide the basis for the regulation of excitability in the central nervous system and in other excitable tissues such as skeletal and heart muscle. Consequently, mutations in ion channel encoding genes are found in a variety of inherited diseases associated with hyper- or hypoexcitability of the affected tissue, the so-called 'channelopathies.' An increasing number of epileptic syndromes belongs to this group of rare disorders: Autosomal dominant nocturnal frontal lobe epilepsy is caused by mutations in a neuronal nicotinic acetylcholine receptor (affected genes: CHRNA4, CHRNB2), benign familial neonatal convulsions by mutations in potassium channels constituting the M-current (KCNQ2, KCNQ3), generalized epilepsy with febrile seizures plus by mutations in subunits of the voltage-gated sodium channel or the GABA(A) receptor (SCN1B, SCN1A, GABRG2), and episodic ataxia type 1-which is associated with epilepsy in a few patients--by mutations within another voltage-gated potassium channel (KCNA1). These rare disorders provide interesting models to study the etiology and pathophysiology of disturbed excitability in molecular detail. On the basis of genetic and electrophysiologic studies of the channelopathies, novel therapeutic strategies can be developed, as has been shown recently for the antiepileptic drug retigabine activating neuronal KCNQ potassium channels.

Ataxia↗
PubMed2001

[The EEG in epilepsy].

This review discusses indications for an EEG-recording in patients suffering from epilepsy. Furthermore, a definition is given for those potentials which can be regarded as epileptiform. This is followed by an overview of interictal and ictal EEG findings observable in focal and generalized epilepsies.

Cerebral Cortex↗
PubMedDate not supplied

Juvenile myoclonic epilepsy: factors of error involved in the diagnosis and treatment.

Juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, has a distinct clinical and electroencephalographic profile. Often JME is not recognized, with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis even in an epilepsy clinic. Of 70 JME patients, 66 (91.4%) were not diagnosed on referral and 22 (33%) were not initially recognized in the epilepsy clinic. The correct diagnosis was established after a mean of 8.3 +/- 5.5 years from disease onset and an interval of 17.7 +/- 10.4 months from first evaluation in the epilepsy clinic. Myoclonic jerks, the hallmark of the disease, were not usually reported by patients. Similarly, relevant questioning may not be included in the history. Absence seizures antedating jerks by many years, myoclonic jerks reported as unilateral, generalized tonic-clonic seizures occurring during sleep and focal EEG abnormalities are other factors contributing to not recognizing JME. Our study reemphasizes the need to have not only a correct seizure diagnosis but also a correct epilepsy-disease diagnosis.

Adolescent↗
PubMed2005

A child with Friedreich's ataxia and epilepsy.

Epilepsy in Friedreich's ataxia is rare. We describe a 9-year-old boy with Friedreich's ataxia who had onset of symptoms in the second year of life and developed a generalized epilepsy at age 5 years. On cerebral magnetic resonance imaging, he has a subependymal gray-matter heterotopia. We suggest that his gray-matter heterotopia might be related to his diagnosis of Friedreich's ataxia and that his early onset of symptoms might be related to the length of his guanine-adenine-adenine (GAA) triplet repeat expansion.

Child↗
PubMed2002

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A.

Evidence that febrile seizures have a strong genetic predisposition has been well documented. In families of probands with multiple febrile convulsions, an autosomal dominant inheritance with reduced penetrance is suspected. Four candidate loci for febrile seizures have been suggested to date; FEB1 on 8q13-q21, FEB2 on 19p, FEB3 on 2q23-q24, and FEB4 on 5q14-15. A missense mutation was identified in the voltage-gated sodium (Na(+))-channel beta 1 subunit gene, SCN1B at chromosome 19p13.1 in generalized epilepsy with the febrile seizures plus type 1 (GEFS+1) family. Several missense mutations of the (Na(+))-channel alpha 1 subunit (Nav1.1) gene, SCN1A were also identified in GEFS+2 families at chromosome 2q23-q24.3. The aim of this report is precisely to describe the phenotypes of Japanese patients with novel SCN1A mutations and to reevaluate the entity of GEFS+. Four family members over three generations and one isolated (phenotypically sporadic) case with SCN1A mutations were clinically investigated. The common seizure type in these patients was febrile and afebrile generalized tonic-clonic seizures (FS+). In addition to FS+, partial epilepsy phenotypes were suspected in all affected family members and electroencephalographically confirmed in three patients of two families. GEFS+ is genetically and clinically heterogeneous, and associated with generalized epilepsy and partial epilepsy as well. The spectrum of GEFS+ should be expanded to include partial epilepsies and better to be termed autosomal dominant epilepsy with febrile seizures plus (ADEFS+).

Adult↗
PubMedDate not supplied

Classification of epilepsies and epileptic syndromes in a child neurology unit.

We attempted to classify, according to the 1989 International Classification of Epilepsies and Epileptic Syndromes, 1076 patients examined during a 4-year period (1 January 1988 to 31 December 1991) in the Child Neurology Unit. We aimed to determine the proportion of the clearly defined epileptic syndromes or the non-specific categories of the International Classification of Epilepsies and Epileptic Syndromes, to estimate the relative incidence of different categories and to review the criteria for defining epileptic syndromes. The proportion in categories as defined by the International Classification of Epilepsies and Epileptic Syndromes in our patients was as follows. Localization-related epilepsies and syndromes: idiopathic 3.15%, symptomatic 17%, cryptogenic 9.20%. Generalized epilepsies and syndromes: idiopathic 20.35%, cryptogenic or symptomatic 14.68%, symptomatic 11.5%. Epilepsies and syndromes undetermined whether focal or generalized: with both generalized and focal seizures 7.8%, without unequivocal focal or generalized features 1.68%. Special syndromes: situation-related seizures: febrile convulsions 12.83%, isolated seizures or isolated status epilepticus 1.02%, seizures due to an acute toxic or metabolic event 1.20%. The presence of non-specific categories in the International Classification of Epilepsies and Epileptic Syndromes enables the categorization of all patients but it gives the false impression of diagnostic precision to what are essentially uncertain cases.

Adolescent↗
PubMed2006

Juvenile myoclonic epilepsy: non-classic electroencephalographical presentation in adult patients.

Although diagnosis of juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, is based on clinical and electroencephalogram (EEG) criteria, at times clinical symptoms may be misleading, like the occurrence of asymmetric myoclonic jerks. Thus EEG assumes an important role in these cases, it can fail to show the classical polyspike and slow wave (PSW) discharges of JME, specially in a routine evaluation in older patients. We analyzed retrospectively EEG results of 35 patients with JME [Commission on Classification and Terminology of the International League Against Epilepsy (ILAE) Epilepsia 1989; 30: 389] aged 12-44 years. (mean 22.7 years) at first medical evaluation. EEG findings of 35 patients (19 females, 16 males) with JME consisted of normal tracings in 22.9 and 54.3% had at least one normal exam. EEG abnormalities present in 27 patients (77.1%) consisted of isolated generalized slowing in two and generalized discharges in 25: irregular spike and wave complexes (SWC) in 76%; PSW in 48%; SWC faster than 3 Hz in 20%; spikes, sharp waves, and irregular slow waves in 24%; asymmetric generalized epileptiform discharges in 40%; and associated focal paroxysms in 12%. Thus JME is classically associated to PSW on EEG, the most frequent abnormality was irregular SWC. Generalized paroxysms could occur in an asymmetric fashion and rarely associated to focal activity.

Adolescent↗
PubMed1993

Epilepsia arithmetices: study of four cases.

In a 12-year period, in a total of about 2000 new patients referred to our Epilepsy Centre, we observed four patients with seizures exclusively or predominantly triggered by calculation or by card and board games (epilepsia arithmetices, EA). In agreement with observations reported in the literature, all the patients suffered from idiopathic generalized epilepsy (IGE), and probably from juvenile myoclonic epilepsy of Janz. In only one patient was it possible, during arithmetic tasks of increasing difficulty and stress, to evoke electroencephalographic (EEG) paroxysmal discharges, progressively increasing to clinical seizures. In the remaining patients the diagnosis of EA was exclusively clinical, as it was not possible to record EEG interictal or ictal paroxysmal activity specifically triggered by arithmetic tasks. Consequently, it is emphasized that in some cases the diagnosis of EA in a patient with IGE may be based exclusively on clinical criteria. As reported in the literature, it is possible to observe during mathematical calculation or during games both clinical (myoclonic jerks of the right hand) and EEG (localized small spikes) focal signs, which suggest a localized activation of specific areas in a patient with IGE.

Adolescent↗
PubMed1989

[A clinical and electroencephalographic study of juvenile myoclonic epilepsy: its pathophysiological considerations based on the findings obtained from neuropsychological EEG activation].

Juvenile myoclonic epilepsy (JME) is one of the idiopathic generalized epilepsies with age-related onset. Myoclonic seizures of JME often occur on awakening. On the other hand, patients with reflex epilepsy, whose seizures are particularly induced by activating higher cognitive functions, are thought to belong to the same category. As to the seizure precipitating factors of these patients with JME, however, few studies have ever been made. In this study, clinical and electroencephalographic findings of 25 patients with JME, on whom "neuropsychological EEG activation" (NPA) was performed, were carefully analyzed. After a routine EEG examination, NPA was carried out; this is a special method for EEG activation that requires the patients to speak, read, write, calculate and perform constructive acts (drawing figures and doing a block design test); in addition to EEG recording, simultaneous video-EEG monitoring was also made during these tasks. In the patients with JME, the sex ratio was about equal (11 males and 14 females). Eight patients (32%) had a family history of epilepsy but none of the patients had a positive past history responsible for epilepsy. The age at the onset of myoclonic seizures ranged between 10 and 20 years (mean: 15.3 years). A total of 18 patients (72%) had another type of seizures; 3 had absence seizures, 9 had generalized tonic-clonic seizures and 6 had both absence and generalized tonic-clonic seizures. Myoclonic seizures often occurred in the morning on awakening in 17 (68%) of 25 patients. As for EEG findings (all but one patient were receiving antiepileptic drugs when EEG was examined), paroxysmal discharges in a resting state were found in 12 patients (48%); most of them were either very brief generalized spike and wave complexes or bursts of generalized 3-5 Hz spike and wave complexes lasting for 1-3 seconds; generalized multiple spikes were observed only in 5 patients. These clinical and EEG findings were in accordance with those reported previously. Careful investigation of the histories obtained from the patients disclosed the following: Myoclonic seizures were induced (1) by mental activity associated with the use of hands in 20 patients (80%), (2) in a situation with psychic tension in 12 (48%), and (3) by decision making in 3 (12%). Interestingly, these findings could be confirmed by NPA with simultaneous video-EEG monitoring.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMedDate not supplied

Genetics of the partial epilepsies: a review.

The research literature is consistent in reporting somewhat less familial aggregation in partial than in generalized epilepsy. However, relatives of patients with partial seizures do appear to have higher seizure risks than relatives of controls, suggesting that genetic factors are important in at least some partial epilepsies. Complex partial epilepsy appears to be only slightly less familial than other types of epilepsy. Relatives of patients with focal EEG abnormalities generally have been found to have lower risk of both EEG abnormalities and epilepsy than relatives of patients with generalized abnormalities. For focal temporocentral abnormalities, however, there is evidence of an important influence of genetic factors.

Disease Susceptibility↗
PubMed2002

PET imaging in epilepsy: basal ganglia and thalamic involvement.

Positron emission tomography imaging has revealed basal ganglia and thalamic abnormalities in cerebral blood flow, metabolism and neurotransmission in patients with partial epilepsy. Although these changes remain of uncertain significance, this involvement could be associated with the initiation, propagation or control of seizures. This paper will review the imaging data obtained using positron emission tomography in patients with partial and generalized epilepsy.

Basal Ganglia↗
PubMed1997

Spontaneous oscillations in cerebral blood flow velocities in middle cerebral arteries in control subjects and patients with epilepsy.

BACKGROUND AND PURPOSE: Cardiac arrhythmias mediated by the sympathetic nervous system have been implicated in sudden, unexplained deaths in patients with epilepsy. Cerebral blood flow velocities (CBFV) as measured by transcranial Doppler are characterized by slow spontaneous oscillations in part attributed to changes in sympathetic activity (M waves, 3 to 9 cycles per minute) and to discharges of monoaminergic neurons in the brain stem (B waves, 0.5 to 2 cycles per minute). This study was designed to compare spontaneous fluctuations of CBFV in patients with epilepsy with those in normal control subjects. METHODS: Simultaneous registrations of scalp electroencephalograms, with electrodes placed according to the 10-20 System, and transcranial Doppler recordings of both middle cerebral arteries were performed in 27 patients (9 with primary generalized epilepsy, 18 with focal epilepsy). Data analysis of CBFV was based on the envelope curves of the Doppler spectrum. A fast Fourier transformation over the 20-minute CBFV curve was performed, and the amplitudes of B and M waves were calculated and compared with those in 20 normal, age-matched control subjects. RESULTS: While the amplitudes of the B waves in both groups were similar, patients with epilepsy showed significantly increased M waves. Patients with focal epilepsy did not present asymmetries between the normal hemisphere and the side of the epileptic focus with respect to both M and B waves. CONCLUSIONS: Enhanced M waves in epileptic patients may reflect increased sympathetic activity even in the absence of seizures. This study provides further evidence for an autonomic dysfunction as a possible mechanism for sudden unexplained death in patients with epilepsy.

Adult↗
PubMed1998

Diazepam binding inhibitor (DBI) in the plasma of pediatric and adult epileptic patients.

The polypeptide diazepam binding inhibitor (DBI) displays epileptogenic activity by binding to benzodiazepine receptors. We analyzed DBI concentrations in the plasma of pediatric and adult epileptic patients, as a possible peripheral marker in epilepsy. DBI plasma concentrations are significantly higher (+ 62%, P < 0.001) in adult patients and slightly but significantly higher (+15%, P < 0.01) in pediatric patients, compared to age-related controls. Strikingly, plasma DBI is much higher (+81%, P < 0.001) in generalized epilepsy in adults and in drug-resistant pediatric and adult patients. Based on these findings, plasma DBI may be considered as a peripheral biological marker of epilepsy and, in association with lymphocyte benzodiazepine receptor density, of anticonvulsant drug responsiveness.

Adolescent↗
PubMedDate not supplied

Patterns of seizures observed in association with neurofibromatosis 1.

Clinical features of seizures occurring in a neurofibromatosis clinic population were examined in a retrospective study. Twenty-two individuals in a population of 359 persons with neurofibromatos 1 (NF1) had had one or more seizures. Age at first seizure ranged from 4 days to > 20 years. Patients were classified into five groups on the basis of medical history, seizure type, and EEG findings. Two patients had seizures in the first 3 months of life: 1 was born prematurely and had perinatal encephalopathy, and the other developed infantile spasms (IS) and had extensive growth of a plexiform neurofibroma. Two males had seizures in association with aqueductal stenosis. Six individuals had one or more generalized seizures with fever, and 3 had primary generalized epilepsy. Nine patients had complex partial seizures (CPS), which varied in clinical manifestations and response to antiepileptic drugs (AEDs). In none of the individuals with seizures in this study was a structural lesion in the brain visible by neuroimaging. Seizures appear to be relatively uncommon in individuals with NF1, and when they occur have a natural history similar to that of seizures in the general population.

Adolescent↗
PubMed1994

[A clinico-encephalographic study of epileptic children using proposal for revised classification of epilepsies and epileptic syndromes].

We reported results of a clinico-encephalographic study using proposal for classification of epilepsies and epileptic syndromes (1989 ILAE). Fifty-three patients belonged to localization-related epilepsies (LE) and syndromes; forty-one patients belonged to generalized epilepsies and syndromes (GE); one patient belonged to epilepsies and syndromes undetermined, focal or generalized; and we could not classify 4 patients. No patients with the onset after 2 years of age belonged to idiopathic LE and no patients with the onset after 10 years of age belonged to symptomatic LE and GE. The rate of patients who had a past history of febrile convulsions was 38% in idiopathic LE and 35% in idiopathic GE. The rate of patients whose epileptic seizures were well controlled by medication was 83%. It was almost 100% in idiopathic LE, cryptogenic LE and idiopathic GE, but it was 60-70% in the other three groups. In seventeen patients their seizures were difficult to control. Six cases in this group had had frontal focus at least once. Although the patients who had had frontal foci at least once were 17 cases seizures could not be controlled in 6 of them. International Classification of Epilepsies and Epileptic Syndromes is convenient to clinicians, but some problems exist. One is unclearness of a definition differentiating cryptogenic from symptomatic LE. The other is the classification of patients with generalized seizures and interictal focal cortical epileptiform EEG activities. An agreement is necessary for these problems.

Age Factors↗
PubMed1999

Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly.

Alobar holoprosencephaly is one of the most severe congenital malformations of the central nervous system. Most affected infants are stillborn or have a very short life-span. The survivors can present with neonatal seizures and/or infantile spasms. We report on an unusually long-lived patient with alobar holoprosencephaly and minor facial dysmorphism, who developed generalized epilepsy during childhood.

Child↗
PubMed2000

[Molecular defects may cause epilepsy. New discoveries can provide better possibilities for directional diagnostics and treatment].

Specific defects in neuronal ion channel proteins have recently been identified in some forms of hereditary epilepsy. A deletion of 300 amino acids from the COOH terminal of the K+ channel reduces the electrical stability of the neuron in subjects with benign familial neonatal seizures. Defects in the protein subunits of the Na+ channel may prolong neuronal depolarization in children with generalized epilepsy with febrile convulsions. A point mutation in one of the ACh receptor subunits may reduce the function of inhibitory interneurons in subjects with autosomal dominant nocturnal frontal lobe epilepsy. Finally, several different defects in the Ca2+ channel amino acid sequence have been identified in various types of epilepsy in mice in which symptoms and EEG show similarities to those in human petit mal. This remarkable progress in the precise localization of ion channel defects in epilepsy provides a novel basis for the development of more differentiated diagnosis and pharmacological therapy.

Amino Acid Sequence↗