What differentiates Landau-Kleffner syndrome from the syndrome of continuous spikes and waves during slow sleep?
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Aphasia↗
Biomedical subjects
P Genton
Publications and source records attributed to P Genton.
Steady state pharmacokinetics of conventional versus controlled-release carbamazepine in patients with epilepsy.
The purpose of the present study was to compare the pharmacokinetic parameters of two carbamazepine (CBZ) tablet formulations (conventional (CBZ-CO) and controlled-release (CBZ-CR)) in patients with epilepsy receiving the drug as monotherapy or polytherapy. The absorption rate constant (Ka), steady-state volume of distribution (Vdss) and total clearance (CL) were computed with the APIS software using 31 blood level profiles from 23 patients who were divided into four groups: patients receiving CBZ-CO in polytherapy, the same patients switched to CBZ-CR in the same polytherapy conditions, patients receiving CBZ-CO in monotherapy and patients receiving CBZ-CR in monotherapy. The four groups were compared in order to assess the significance of differences in Ka, Vdss, CL and diurnal fluctuations of plasma CBZ concentration. The results show a significant decrease of the Ka in the CBZ-CR groups compared to the CBZ-CO groups, both on monotherapy and on polytherapy. The comparison between the monotherapy and polytherapy groups shows increases of Vdss and CL, both in CBZ-CO and CBZ-CR polytherapy groups. Dispersion of pharmacokinetic data was higher in patients on CBZ-CO; among patients on CBZ-CR, dispersion was lowest in the monotherapy group. Clinical improvement was found in four of eight patients switched from CBZ-CO to CBZ-CR. CBZ-CR is therefore a valuable alternative to CBZ-CO.
Adolescent↗
[Fibromyalgia disclosing Gélineau's disease: apropos of 2 cases].
Sleep abnormalities are frequently reported as possible etiopathogenic factor of fibromyalgia. We report 2 cases of fibromyalgia revealing a long-standing narcolepsycataplexy.
Aged↗
Epileptic negative myoclonus.
Five patients with partial epilepsy of diverse etiology insidiously developed action-activated jerks. The disorder was limited to one arm in two patients and to the legs in another, and was multifocal in the remaining two. Each jerk was related to an EMG silent period lasting 100 to 400 msec, causing a lapse followed by resumption of posture. Simultaneous EEG-EMG recording showed each postural lapse to be time-locked with a sharp or spike and slow-wave transient over the contralateral sensorimotor cortex, where almost continuous paroxysmal activity occurred. The three patients who were able to cooperate during neurologic evaluation also exhibited motor neglect in the most affected body segment and decreased awareness of the disorder. In three patients, the phenomenon was medically resistant, and in two of them it was continuous and could be defined as epilepsia partialis continua. In the other two, medical treatment induced remission of EEG, motor, and neuropsychological abnormalities. This disabling movement disorder can be classified as "epileptic negative myoclonus" and may result from focal-discharge-related transient disruption of cortical function in the sensorimotor cortex.
Adolescent↗
Fibrositis syndrome and narcolepsy.
Fibrositis is often associated with sleep disturbances and with an alpha nREM abnormality on sleep electroencephalogram. We describe a case occurring during the course of a typical longstanding narcolepsy-cataplexy. Modafinil, that is an effective treatment of hypersomnia, did not alleviate the symptoms of fibrositis in the short term.
Aged↗
Identical genetic locus for Baltic and Mediterranean myoclonus.
Genetic linkage analysis shows that Baltic and Mediterranean myoclonus, two forms of progressive myoclonus epilepsy, are closely linked to marker D21S113 on the long arm of chromosome 21. Baltic and Mediterranean myoclonus are most probably due to mutations of the same gene.
Alleles↗
Distribution of carbamazepine and its epoxide in blood compartments in adolescent and adult epileptic patients.
Carbamazepine (CBZ) used in the treatment of epilepsy, is metabolized in man to an active metabolite: carbamazepine 10-11 epoxide (CBZ-E). CBZ and CBZ-E concentrations in the different blood compartments (plasma ultrafiltrate, plasma proteins, and red blood cells (RBC)) of epileptic patients on CBZ monotherapy were assessed using HPLC. The highest CBZ and CBZ-E level to dose ratios were observed in the RBC. For CBZ and CBZ-E significant correlations were found between some blood compartments particularly between RBC and plasma ultrafiltrate. The measurement of CBZ and CBZ-E in all blood compartments may be interesting in uncontrolled patients and in patients presenting side-effects which cannot be explained by total plasma concentration values.
Adolescent↗
Effect of alcohol on action myoclonus in Lance-Adams syndrome and progressive myoclonus epilepsy.
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Alcohol Drinking↗
Continuous focal spikes during REM sleep in a case of acquired aphasia (Landau-Kleffner syndrome).
We report a girl 3 years and 6 months old with onset of aphasia at age 3 years and 3 months. There was no evidence of brain damage and there were no seizures. The neuropsychological evaluation showed that the girl tended to be right-handed, that aphasia was global and that other higher cortical functions seemed to be preserved. Isolated spikes and spikes-and-wave were recorded during wake over the right temporal region with rare independent contralateral abnormalities. During polysomnography (PSG), the physiological patterns of sleep were preserved and right temporal epileptiform discharges were significantly increased in all sleep stages. Maximal activation was obtained at sleep onset and during rapid eye movement (REM) sleep periods, when focal abnormalities became continuous and spread contralaterally. Repeat PSGs showed that the activation profile retained this particular trait, although subclinical discharges tended to increase during slow wave sleep (SWS). This pattern of subclinical temporal status epilepticus during REM sleep differs from the characteristic activation profile found in the syndrome of continuous spikes-and-waves during SWS. However, this profile was transient and all epileptiform changes disappeared during clinical recovery at 18 months of follow-up.
Anticonvulsants↗
Interactions between clobazam and standard antiepileptic drugs in patients with epilepsy.
We retrospectively collected plasma level assessments performed in 96 adult patients with epilepsy on stable monotherapy, including 9 patients on clobazam (CLB), 34 on carbamazepine (CBZ), 24 on phenobarbital (PB), 9 on phenytoin (PHT), and 20 on valproate (VPA); these results were compared to those obtained in 54 adult patients on stable bitherapy with the association of CLB with either CBZ (n = 17), PB (n = 17), PHT (n = 5), or VPA (n = 15). Our results show that CLB has no significant effect on the level to dose ratio (LDR) of CBZ, PB, PHT, or VPA. Conversely, CBZ, PB, and PHT significantly decrease the LDR of CLB. CBZ and PHT significantly increase the LDR of N-desmethylclobazam (NCLB), the major metabolite of CLB. A significant increase in the NCLB/CLB ratio was found in CBZ + CLB, PB + CLB, and PHT + CLB bitherapies. These findings are of clinical significance: clobazam is useful as adjunctive treatment in human epilepsy and is often chosen as the benzodiazepine adjunctive drug in chronic resistant epilepsy. Sedative side effects may occur, especially in patients treated by a CBZ + CLB or PHT + CLB bitherapy, and both CLB and NCLB plasma levels should be monitored in such patients.
Adolescent↗
'De novo' absence status of late onset: report of 11 cases.
Absence status (AS) is a heterogenous epileptic syndrome that can occur at any age, usually in a context of prior epilepsy. Eleven cases of AS occurring in middle-aged patients who had no history of epilepsy were retrospectively collected over a 10-year period (10 women and one man; mean age, 58.6 years). Eight patients were receiving high doses of psychotropic drugs. Clinical and EEG presentation was similar to AS occurring in patients with prior epilepsy. Evaluation of precipitating factors revealed that AS coincided with benzodiazepine withdrawal in eight cases. Cofactors included excessive use of other psychotropic drugs, nonpsychotropic treatment, hypocalcemia, hyponatremia, and chronic alcoholism. CT demonstrated mild cerebral atrophy in six cases. There was no recurrence, even without chronic antiepileptic treatment. These data indicate that (1) most cases of "de novo" AS of middle age or late onset result from the addition of various epileptogenic factors; (2) AS can be considered a new and uncommon complication of benzodiazepine withdrawal, and (3) long-term administration of anticonvulsant medication may not be required.
Aged↗
Benign myoclonic epilepsy of infancy: electroclinical symptomatology and differential diagnosis from the other types of generalized epilepsy of infancy.
Benign myoclonic epilepsy in infancy (BME) is characterized by the occurrence of brief myoclonic attacks in normal infants aged 4 months to 3 years. There is no prior personal history, although in some patients 1 or 2 isolated febrile convulsions may occur prior to the onset of myoclonias. A family history of epilepsy or febrile convulsions is present in 30% of cases. Myoclonic attacks are short and mild, they involve mainly the head and upper limbs. The psychomotor development continues normally after the onset of seizures. The EEG shows a normal background activity and generalized spike-wave or polyspike-wave discharges associated with the myoclonias. These abnormalities are activated by drowsiness and during the first stages of sleep. A clinical and EEG photosensitivity is present in one-third of the patients. Myoclonias can be easily controlled by valproate monotherapy. Rare grand mal seizures can occur during adolescence, after withdrawal of drug treatment. The psychomotor evolution is good if treatment is started early. When myoclonias begin during the first year of life, the diagnoses of cryptogenic infantile spasms and of non-epileptic benign infantile myoclonus must be eliminated. In cases with a later onset, the following diagnoses can usually be easily discarded: cryptogenic Lennox-Gastaut syndrome, myoclonic-astatic epilepsy and unclassified epilepsies with the association of myoclonias and other types of seizures.
Cerebral Cortex↗
Epilepsy, antiepileptic drugs, and malformations in children of women with epilepsy: a French prospective cohort study.
We conducted a prospective study of teratogenic effects of antiepileptic drugs (AEDs) in pregnant women with epilepsy in southeast France, comparing malformation rates with those collected by a birth defects registry. We evaluated isolated microcephalies separately. Malformations were seen in 7% of infants of mothers with epilepsy (IME) and in 1.36% of the general population. No significant relationship was found between type and severity of epilepsy and occurrence of malformations or isolated microcephaly. Valproate and phenytoin were the most teratogenic (all malformations). None of the malformations observed in IME whose mothers received valproate, phenytoin, or phenobarbital was seen in IME not exposed to the respective AEDs. Phenytoin plus phenobarbital was more teratogenic than phenobarbital alone. Benzodiazepines, prescribed only in combinations, had a borderline, nonspecific effect on microcephaly.
Abnormalities, Drug-Induced↗
[The role of mitochondrial encephalopathies in progressive myoclonus epilepsy].
The authors compare the clinical, neurophysiological and evolutive features of progressive myoclonus epilepsy (PME) associated with mitochondrial encephalomyopathy with ragged-red fibers (MERRF), based on 49 cases from the literature, and the two well-described types of degenerative PME: Baltic myoclonus (BM), of which over 100 cases have been reported from Finland, and Mediterranean myoclonus (MM), based on a personal series of 43 patients. Degenerative PMEs are age-dependent, recessively inherited conditions with homogeneous clinical signs and course; there are no major clinical symptoms beside the cardinal symptoms: generalized epileptic seizures, predominantly action myoclonus and cerebellar dysfunction; mental deterioration when present, is slight and progresses very slowly; associated neurological symptoms are uncommon and limited to mild spino-cerebellar involvement. In MERRF, the transmission is maternal, the age of onset is variable, the evolution is not stereotyped and associated symptoms are many (deafness, muscle weakness, optic atrophy, short stature, sensory disturbances, spasticity, clinical or neurophysiological signs of peripheral neuropathy, absence of motor reflexes); muscle biopsy generally shows ragged-red fibers. The differential diagnosis between these conditions is usually easy, although pathological examination (i.e. muscle biopsy) should be performed.
Biopsy↗
[Reducing and stopping treatment].
It is nowadays well-established that a large number of patients with epilepsy can experience a full remission of their condition. In some cases, seizures that were resistant at the onset of the disease may become responsive to therapy over the years. A good knowledge of the classification of epilepsies and epileptic syndromes may give important clues to the overall prognosis of particular epilepsy case. In subjects controlled by therapy, a slow and careful discontinuance of drugs may be initiated after a 2-year seizure-free period. If seizures recur, it will most probably be possible to return to full control with a lesser treatment. Even if seizures fail to be totally controlled and therapy cannot be discontinued, it is often possible to reduce polypharmacy and thus lessen unwanted side-effects.
Anticonvulsants↗
The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus.
Among progressive myoclonus epilepsies (PME), the nosography of the Ramsay Hunt syndrome (RHS) has been much debated. The authors report on a homogeneous group of 43 patients originating from around the western Mediterranean, with a large number of northern African subjects, who were followed up for a mean period of 11.6 years. Onset is between 6 and 17 years (mean: 11.2) and the transmission appears to be recessive. The clinical features include: action myoclonus, generalized epileptic seizures, mild cerebellar signs and lack of dementia. EEG features include normal background activity, spontaneous fast generalized spike-wave discharges, photosensitivity, lack of activation during nREM sleep and vertex/rolandic spikes during REM sleep. The prognosis is variable, even within families, but the progression seems to be slow in a majority of patients. This condition can be distinguished from mitochondrial encephalomyopathy and is less severe than Baltic myoclonus. The authors propose that this form of PME, formerly reported as RHS, be more properly described as Mediterranean myoclonus.
Adolescent↗
Brainstem auditory evoked potentials in alternating hemiplegia: ictal vs interictal assessment in one case.
The authors report a case of alternating hemiplegia (AH) in a 3yr 6m old boy who had presented, from the age of 4 months on, episodes of alternating hemi- or quadriplegia. Brainstem auditory evoked potentials were recorded both in the interictal state and, for the first time, during an attack. There was no significant difference between the two states. These findings suggest that a massive involvement of the posterior vascular territory is not likely to be associated with attacks in AH.
Brain Stem↗
Antimyoclonic effects of alcohol in progressive myoclonus epilepsy.
We studied the effect of a single oral intake of 30 to 40 grams of alcohol in 4 consecutive patients presenting with Ramsay Hunt syndrome, the most common type of degenerative progressive myoclonic epilepsy (PME) encountered in southern Europe. Clinical and polygraphic monitoring demonstrated abatement of myoclonus in all patients, although the degree of improvement varied among patients. These findings show that alcohol is a potent antimyoclonic agent. In the particular context of PME, occasional alcohol intake may help patients in their social life.
Administration, Oral↗