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Biomedical subjects

C Dravet

Publications and source records attributed to C Dravet.

At least 55 records · Page 3Linked to original sources
PubMed1992

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↗
PubMed1991

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

We describe a young man with a progressive neurological disorder including myoclonus, mental retardation, muscle weakness and a mitochondrial myopathy (myoclonus epilepsy and ragged red fibres--MERRF). Multiple abnormalities of the mitochondrial respiratory chain in skeletal muscle are shown by direct measurement of the flux through the individual complexes, low-temperature redox spectroscopy and decreased immunodetectable subunits of complexes I and IV by immunoblotting. No abnormality of mitochondrial DNA was found. This is the first report of combined defects of complexes I, III and IV as a cause of this clinical syndrome. However, we propose that the occurrence of multiple respiratory chain defects may be more common than previously recognised and that this particular combination of defects, involving complexes I, III and IV, may be the predominant biochemical abnormality in MERRF.

Adult↗
PubMed1991

[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↗
PubMed1990

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↗
PubMed1989

[Electroencephalographic findings in severe symptomatic partial epilepsies in childhood].

The EEG records of 64 patients affected by a symptomatic severe partial epilepsy have been reviewed retrospectively. The epilepsy started before age 12. The follow-up was at least 5 years after the onset of the disease. In a longitudinal study of interictal EEG, the following parameters were studied: normal or slightly abnormal EEG records at the onset, late appearance of abnormalities of background, multifocal abnormalities and generalized spike and wave discharges. The study of ictal EEG was performed in 32 patients: a good correlation with the interictal and ictal site of the discharges was found. The EEG semeiology of the seizures persisted unchanged throughout the evolution.

Adolescent↗
PubMed1989

[Contribution of ambulatory EEG recording (Medilog 9000) in a population of epileptics].

Thirty-four epileptic patients, aged 9 to 36, were submitted to A/EEG between May 1987 and July 1988. All patients had a thorough clinical and EEG work-up including long-term conventional EEG, afternoon polygraphic sleep recording and, in some cases, full-night EEG and video monitoring. Patients were divided into 2 groups: group I included 19 patients (18 with symptomatic partial epilepsy (SPE) and 1 with idiopathic generalized epilepsy (IGE) in whom no seizure had ever been recorded in spite of EEG recordings averaging a total of 16 hrs 10 min, awake and asleep); group II included 15 subjects (6 with SPE, 5 with IGE, 3 with symptomatic GE and 1 with undetermined epilepsy) in whom one or several seizures had been recorded. A/EEG was performed in order to: 1) obtain better clinical and EEG characterization of seizures, 2) study the circadian distribution of seizures, 3) verify the efficacy of drug treatment and, 4) establish the epileptic or non-epileptic nature of some ictal events. The results of A/EEG were considered positive in 52.63% of group I patients and in 93.33% of group II patients. The authors discuss the specific advantages of A/EEG vs conventional EEG: recording of seizures with random occurrence, of seizures accompanied by falls, checking the remission of seizures.

Adolescent↗
PubMed1989

Magnetic resonance imaging in partial epilepsy of childhood. Seventy-nine cases.

A heterogeneous series of 79 children with partial epilepsy was studied by computerized tomography (CT) and magnetic resonance imaging (MRI) to evaluate the contribution of MRI to the aetiological diagnosis of that disease. Both CT and MRI were normal in 13 cases and abnormal in 41 cases showing the same pathology (malformation, atrophy, tumour, scar). In 4 cases of continuous partial epilepsy the lesions observed were either diffuse or focal corresponding to the electrical focus, and they could be due to Rasmussen's encephalitis. In 19 cases where CT gave normal results, MRI showed bilateral high-intensity signal areas of uncertain significance in the white matter of the caudal part of the hemispheres. All considered, it seems that with its greater sensitivity MRI should be the first or only exploratory method to be used in the evaluation of partial epilepsy of childhood.

Adolescent↗
PubMed1988

[Napping sleep EEG in partial childhood epilepsy].

A nap sleep EEG with at least one full sleep cycle has been recorded in 3 groups of children free from diffuse encephalopathy and presenting with partial epilepsy with onset after the age of 3 years: 15 cases with typical benign epilepsy with centrorolandic spikes (BERS), 15 cases with partial symptomatic epilepsy without clinical or radiological evidence of a cerebral lesion, and 12 cases with partial epilepsy symptomatic of a proven cerebral lesion. The time course of paroxysmal abnormalities was quantified according to individual sleep stages; the number of foci was also quantified in the waking vs sleeping state. Paroxysmal abnormalities are significantly enhanced by sleep in all 3 groups: throughout sleep stages in BERS, in slow sleep stages only in the other groups. The enhancement is more striking in BERS, where a clear decrease of abnormalities is also found upon awakening. There is no major difference between the 2 symptomatic groups, with a greater enhancement of paroxysms in the proven lesional group. Contrary to the other groups, only the group including those patients with a documented cerebral lesion showed a significant increase in the number of foci during sleep: numerous foci were found in these patients that were distinct from the primary lesional focus. Under the conditions of our study, the nap EEG seems to provide an accurate evaluation of sleep-induced changes of paroxysmal activity in partial epilepsies of childhood.

Child↗
PubMed1987

[Lennox-Gastaut syndrome in the adult].

The authors used the definition of the Lennox-Gastaut syndrome (LGS) adopted by the Commission on Classification and Terminology of the International League against Epilepsy. Three hundred and thirty eight patients with childhood LGS have been followed until adulthood; 62.4 p. 100 had an unfavourable outcome. All began their LGS in childhood or infancy (between the ages of 1 and 8.80 p. 100 before the age of 4). In 46.9 p. 100 of cases, complete LGS persisted in the adult. Most cases were apparently primitive. In 15.6 p. 100 of cases, generally symptomatic, the LGS disappeared but an often severe, mostly multifocal epilepsy persisted. 37.6 p. 100 of cases had a more or less favourable outcome. In these cases, the LGS had often begun later (between 7 and 11 years of age) and lasted for less (between 2 and 6 years). Some patients (20.4 p. 100) still had fairly rare partial seizures and neurological or psychiatric symptoms. These cases were mostly symptomatic, 17.4 p. 100 of cases seemed to have been nearly completely cured. These were cases where the LGS had followed another type of epilepsy, mostly of the idiopathic generalized type. Fourty four patients with no prior epilepsy presented with LGS appearing between the ages of 13 and 23. They were divided into 2 groups: in 31 patients, the LGS was associated with focal signs. In all these cases, the evolution was for the worse, whatever the age at onset. In 13 cases, there were no focal signs. In these, there was a different prognosis between those with an onset between the ages of 13 and 15, where the entire syndrome persisted and the evolution is for the worse, and those with an onset after the age of 15, where the outcome was better.

Adolescent↗
PubMed1986

[Status epilepticus in the Lennox-Gastaut syndrome].

Thirty patients with the Lennox-Gastaut syndrome presenting one or more status epilepticus (the first before age 15) were studied. Triggering factors, semiology, duration, severity and EEG features were considered. A comparison was made between this group of patients and another group having the Lennox-Gastaut syndrome but without status. No significant difference appears in the long-term prognosis, even when status were prolonged. Only three patients died during a status. For this reason the authors recommend prudence and avoidance of very strong treatment. In their experience, intravenous diazepines, intravenous phenytoin and intramuscular ACTH were the most effective drugs.

Adolescent↗
PubMed1986

[Contribution of sleep EEG to epileptology: evaluation of a year-long study].

In order to confirm, or to deny, the diagnosis of epilepsy a sleep EEG recording as a supplement to the routine EEG investigation has been performed in 229 subjects in 1980 at Saint Paul Center. In 93% of the cases, spontaneous afternoon napping, and in 7% spontaneous nocturnal sleep was studied. Sleep EEG was analysed and correlated to the clinically suspected type of epilepsy. The occurrence of focal or generalized EEG abnormalities, clearly related to the type of epilepsy, confirmed anamnestic and clinical findings in 54% of the cases and gave a more accurate diagnosis in 20% of the cases. Sleep recordings were necessary for the diagnosis of the type of epilepsy in 2% of the cases.

Electroencephalography↗
PubMed1986

Benign myoclonus of early infancy or benign non-epileptic infantile spasms.

Lombroso and Fejerman (1983) described a syndrome which shares with West syndrome the clinical features of flexion spasm with onset in early infancy. However the syndrome differs from West syndrome in the absence of mental and psycho-motor involvement and having a normal EEG during wakefulness and sleep. We report four cases of these benign spasms of early infancy with polygraphic recording of the spasms providing the following information: the spasms are clinically similar to those often observed in West syndrome; namely they are characterized by a short (2-4 sec.) tonic contraction, there are no significant changes of the EEG concomitant to the spasm, series of spasms can occur not only during the daytime but also during sleep and immediately after awakening. Differential diagnosis is discussed with West syndrome and benign myoclonic epilepsy in infancy and with non-epileptic syndromes. The authors propose to name this syndrome: Benign Non-Epileptic Infantile Spasms.

Electroencephalography↗
PubMed1983

[Early diagnosis of Lafora disease. Significance of paroxysmal visual manifestations and contribution of skin biopsy].

The early diagnosis of Lafora's disease is often difficult, from primary generalized epilepsy and other progressive myoclonic epilepsies. The authors emphasize the diagnostic interest of paroxysmal visual manifestations, reported in only 25 per cent of the cases in the literature, and present in 17 of their 31 personal cases. These visual manifestations can be elementary or complex. The elementary ones appear often early, before other symptoms of the disease. Two demonstrative cases are reported. In one of them an occipital seizure was recorded, demonstrating the epileptic critical nature of these elementary visual manifestations. They have a high diagnostic value since they do not occur neither in primary generalized epilepsy (Grand Mal type), nor in the other progressive myoclonic epilepsies. In the 2 reported cases, skin biopsy, as proposed by Carpenter and Karpati, demonstrated the specific storage in the sweat ducts and glands. The interest of this skin biopsy is underlined, its positivity seeming both constant and specific in Lafora's disease.

Adolescent↗
PubMed1983

[Nosological aspects of epilepsia partialis continua in children].

Among 26 patients suffering from Epilepsia Partialis Continua, 2 major groups were observed. The first, resulting from a fixed lesion of the rolandic area, showed electro-clinical correlation of seizures; the latter disappeared during sleep; clinical and radiological follow-up failed to disclose any worsening of the cerebral lesion. The second group was characterized by progressive mental and motor deterioration, lack of electro-clinical correlation of fits, persistence of the latter during sleep and frank increase of cerebral atrophy observed on serial neuroradiological examinations. This easily recognized group seems to result from a progressive inflammatory disease of unknown cause.

Child↗