How much risk does a woman with active epilepsy pose to her newborn child in the puerperium? A pilot study. (1/85)

Much attention in the literature has recently been paid to women's issues in epilepsy but most of the literature stops in the delivery room or at the first moment of suckling. Although it is commonly supposed that a woman who continues to have active epilepsy during the puerperium will pose a risk to her child, little assessment of how great a risk this is has been carried out. We present an audit of the puerperal experiences of 187 women with epilepsy counselled before birth in our women's clinic and contrast this with a number of women with epilepsy seen for the first time in the puerperium (and therefore uncounselled). The audit suggests that in counselled women the risk is very low (women with Juvenile Myoclonic Epilepsy may be particularly at risk, as may women with tonic-clonic seizures that occur without warning, plus those with automatisms or who have prolonged post-ictal confusion). Some women with controlled epilepsy prior to conception may lose that control during the puerperium so even women with well controlled epilepsy should adopt precautions in the puerperium. The only baby to die (or be seriously injured) in the puerperium born to a woman with epilepsy was killed in the mother's first seizure.  (+info)

Factors of error involved in the diagnosis of juvenile myoclonic epilepsy: A study from South India. (2/85)

The study was aimed at finding possible factors for delay in the diagnosis of juvenile myoclonic epilepsy (JME) in a developing country. Data was analyzed retrospectively through the medical records and prospectively through a re-evaluation of the history and EEGs of patients with JME registered in a university hospital in south India. Of the 131 patients, 23 (17.5%) patients were seen by neurologists before registration in the clinic. Diagnosis of JME was established in 118 patients at the time of registration and in 13 (10%) patients during follow-up in the clinic. The mean interval between onset of disease and the diagnosis was 6.8 + 6.3 years. In 20 patients the diagnosis was established 10 years after the onset. The mean interval between the first evaluation and diagnosis was 24. 2 months in the 13 patients in whom the diagnosis was established during follow-up in the clinic. Lack of familiarity with the clinical syndrome was probably the factor for delay in the diagnosis in 108 patients seen by practising physicians. The factors for delay in the diagnosis in patients seen by neurologists included failure to ask about myoclonic jerks resulting in misinterpretation of EEGs in 28 patients, misinterpretation of absences and/or unilateral jerks in 4 patients, and failure to ask about myoclonic jerks and misinterpretation of focal EEG abnormalities in 4 patients. This study suggests that the possible factors of error in the diagnosis of JME among the neurologists were similar to the observations reported from the developed countries; whereas the factor for delay in the diagnosis of JME among practising physicians was lack of familiarity with the epileptic syndrome.  (+info)

Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy. (3/85)

Evidence for genetic influences in epilepsy is strong, but reports identifying specific chromosomal origins of those influences conflict. One early study reported that human leukocyte antigen (HLA) markers were genetically linked to juvenile myoclonic epilepsy (JME); this was confirmed in a later study. Other reports did not find linkage to HLA markers. One found evidence of linkage to markers on chromosome 15, another to markers on chromosome 6, centromeric to HLA. We identified families through a patient with JME and genotyped markers throughout chromosome 6. Linkage analysis assuming equal male-female recombination probabilities showed evidence for linkage (LOD score 2.5), but at a high recombination fraction (theta), suggesting heterogeneity. When linkage analysis was redone to allow independent male-female thetas, the LOD score was significantly higher (4.2) at a male-female theta of.5,.01. Although the overall pattern of LOD scores with respect to male-female theta could not be explained solely by heterogeneity, the presence of heterogeneity and predominantly maternal inheritance of JME might explain it. By analyzing loci between HLA-DP and HLA-DR and stratifying the families on the basis of evidence for or against linkage, we were able to show evidence of heterogeneity within JME and to propose a marker associated with the linked form. These data also suggest that JME may be predominantly maternally inherited and that the HLA-linked form is more likely to occur in families of European origin.  (+info)

Diagnosing idiopathic/cryptogenic epilepsy syndromes in infancy. (4/85)

PURPOSE: To determine the characteristics that permit diagnosis of the type of epilepsy beginning in the 1st year of life, and to determine from what age such characteristics are recognisable. PATIENTS: From 430 non-selected patients who began having seizures in the 1st year of life and were referred to the neuropaediatric department of Saint Vincent de Paul Hospital, those with epileptic spasms as the first seizure type, those with recognisable aetiology, and those for whom early history was not reliable were excluded. METHODS: For the remaining 140 patients, the age at which clinical and electroencephalogram (EEG) characteristics met those of recognisable epilepsy syndromes according to the ILAE classification was studied. RESULTS: In most epilepsy syndromes, the diagnosis could be made within three months of onset of the disorder. The most difficult was to distinguish cryptogenic localisation related epilepsy from severe myoclonic epilepsy in infancy. Repeat focal seizures and persisting spike focus were the earliest and most reliable signs of localisation related epilepsy, whereas alternating focal seizures, generalised myoclonus, and/or spike waves appeared before the end of the 1st year in most infants with severe myoclonic epilepsy. However, for 39 patients it was not possible to reach the diagnosis of a precise syndrome. CONCLUSION: For over three quarters of infants with cryptogenic/idiopathic epilepsy, it is possible to reach a syndromic diagnosis within the first months of the disease, based on clinical and EEG characteristics. However, for one quarter, no diagnosis is possible based on the currently available classification.  (+info)

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. (5/85)

Inactivation of the beta4 subunit of the calcium channel in the mouse neurological mutant lethargic results in a complex neurological disorder that includes absence epilepsy and ataxia. To determine the role of the calcium-channel beta4-subunit gene CACNB4 on chromosome 2q22-23 in related human disorders, we screened for mutations in small pedigrees with familial epilepsy and ataxia. The premature-termination mutation R482X was identified in a patient with juvenile myoclonic epilepsy. The R482X protein lacks the 38 C-terminal amino acids containing part of an interaction domain for the alpha1 subunit. The missense mutation C104F was identified both in a German family with generalized epilepsy and praxis-induced seizures and in a French Canadian family with episodic ataxia. These coding mutations were not detected in 255 unaffected control individuals (510 chromosomes), and they may be considered candidate disease mutations. The results of functional tests of the truncated protein R482X in Xenopus laevis oocytes demonstrated a small decrease in the fast time constant for inactivation of the cotransfected alpha1 subunit. Further studies will be required to evaluate the in vivo consequences of these mutations. We also describe eight noncoding single-nucleotide substitutions, two of which are present at polymorphic frequency, and a previously unrecognized first intron of CACNB4 that interrupts exon 1 at codon 21.  (+info)

Juvenile myoclonic epilepsy: a study in Sri Lanka. (6/85)

Juvenile myoclonic epilepsy (JME) has a distinct clinical profile. Often JME is not recognized, with the result that proper treatment is not instituted, leading to poor control of seizures. This study is an attempt to identify the factors that contribute to the delay in diagnosing this condition. During a period of 3 years 40 patients (21 females) with JME were identified and all were included in a prospective follow-up study. The age range was 12-58 years. Twenty-seven patients (67%) had already seen at least one specialist; however, diagnosis had not been made despite the presence of characteristic features. The duration of delay in diagnosis varied from months to years with a mean of 11 years. Myoclonic jerks were the most characteristic feature, but only six volunteered this information spontaneously. The response to treatment with sodium valproate was excellent, although only three were taking it when first seen. As a result of treatment with other drugs all patients were having recurrent seizures. The main reasons for the delay in diagnosis found in our study were that the physicians were unaware of the condition, the occurrence of myoclonic jerks were overlooked either because the patients were not directly questioned about them or because the patients did not volunteer the information.  (+info)

Photosensitivity in juvenile myoclonic epilepsy. (7/85)

Photosensitivity is reported to occur in approximately 40% of patients with juvenile myoclonic epilepsy. Our experience suggests that the prevalence is higher and may be related to both the duration of intermittent photic stimulation and also the age at which the procedure is undertaken. A two-year retrospective review of all EEGs was undertaken on all children attending a paediatric EEG department to identify those with juvenile myoclonic epilepsy. Photosensitivity was defined as a generalized spike or spike-wave paroxysm occurring at least twice during intermittent photic stimulation. Sixty-one children with a diagnosis of juvenile myoclonic epilepsy with a median age of 13 (range 7-16) years were identified, 55 (90%) of whom were photosensitive. Eighteen of these 55 patients showed photosensitivity only after four minutes of continuous photic stimulation. The prevalence of photosensitivity in juvenile myoclonic epilepsy is likely to be higher than previously reported. When a diagnosis of juvenile myoclonic epilepsy is being considered, the initial diagnostic EEG should include intermittent photic stimulation for up to five minutes, or less if the patient shows evidence of photosensitivity. The identification of photosensitivity may have important management implications.  (+info)

Genome search for susceptibility loci of common idiopathic generalised epilepsies. (8/85)

Genetic factors play a major role in the aetiology of idiopathic generalised epilepsies (IGEs). The present genome scan was designed to identify susceptibility loci that predispose to a spectrum of common IGE syndromes. Our collaborative study included 130 IGE-multiplex families ascertained through a proband with either an idiopathic absence epilepsy or juvenile myoclonic epilepsy, and one or more siblings affected by an IGE trait. In total, 413 microsatellite polymorphisms were genotyped in 617 family members. Non-parametric multipoint linkage analysis, using the GeneHunter program, provided significant evidence for a novel IGE susceptibility locus on chromosome 3q26 (Z(NPL) = 4.19 at D3S3725; P = 0.000017) and suggestive evidence for two IGE loci on chromosome 14q23 (Z(NPL) = 3.28 at D14S63; P = 0.000566), and chromosome 2q36 (Z(NPL) = 2.98 at D2S1371; P = 0.000535). The present linkage findings provide suggestive evidence that at least three genetic factors confer susceptibility to generalised seizures in a broad spectrum of IGE syndromes. The chromosomal segments identified harbour several genes involved in the regulation of neuronal ion influx which are plausible candidates for mutation screening.  (+info)