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Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) was initially described in the early 90s as a sporadic clinical condition, characterized by seizures, motor and intellectual impairment with variable clinical presentation, and without a known genetic cause. Although causative mutations in SLC2A1 were later identified and much more is known about the disease, it still remains largely underdiagnosed. In the current study, a previously described Italian family was re-analyzed using whole exome sequencing and clinically re-evaluated. Affected individuals presented with spastic paraplegia as a predominant symptom, with epilepsy and intellectual disability, inherited as an autosomal dominant trait with variable clinical presentation. While a novel variant of hereditary spastic paraplegia (HSP) was initially hypothesized in this family, previous linkage studies of known HSP genes did not identify the genetic cause. Exome-sequencing study identified a p.Arg126Cys mutation in the SLC2A1 gene, encoding GLUT1, which segregated with the affected members of the family. The diagnosis of GLUT1DS was further confirmed by cerebrospinal fluid analysis, and treatment was started with good initial response. The description of this large family provides further clinical information on this rare disease. It also offers an example of how GLUT1DS can be challenging to diagnose, and emphasizes the importance of lumbar puncture in the workflow of similar syndromes. Finally, it suggests that analysis of SLC2A1 should be considered in the diagnostic work up of HSP, especially if it is associated with epilepsy., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Psychiatric and neurological disturbances can show up with panic attack symptoms. This report illustrates the difficulty in distinguishing between panic disorder and epilepsy in a subgroup of epileptic patients that suffer panic attacks as symptoms of seizures. This is the first report of panic attacks due to a focal lesion involving the left temporal lobe and the second case of panic attacks related to a meningioma.

We have recently mapped a new rare form of spastic paraplegia complicated by bilateral cataracts, gastroesophageal reflux with persistent vomiting, and amyotrophy to chromosome 10q23.3-q24.2. This locus, named SPG9, is located in an interval spanning about 12 cM of genomic DNA, between markers D10S536 and D10S603, where different neurological disorders have been mapped. In particular, a gene for partial epilepsy has been assigned to a 3 cM interval between markers D10S185 and D10S577, which is completely included in the SPG9 critical region. A few families affected with spastic paraplegia and epilepsy have been reported; in the present study, we tested a pedigree with concurrence of spastic paraplegia, epilepsy, and mental retardation inherited as an autosomal dominant trait, using markers located in the SPG9 interval. Haplotype reconstruction excluded the linkage to 10q23.3-q24.2. In addition, the seven different loci so far reported to be associated with autosomal dominant pure forms of spastic paraplegia have been tested and excluded by linkage analysis and haplotype reconstruction, including SPG4 on chromosome 2p22-p21, where a familial form of spastic paraplegia associated with dementia and epilepsy has been mapped. These data confirm genetic heterogeneity in familial spastic paraplegia with epilepsy and suggest a specific locus for the family here analyzed., (Copyright 2003 Wiley-Liss, Inc.)

The interactions between sleep and epilepsy are well known. A nodal point of the relationship between sleep and epilepsy is represented by pharmacological treatment. Sleep disturbances such as drowsiness are among the most frequent side effects of treatment with antiepileptic drugs, since they can deeply modify both sleep architecture and the sleep-wake cycle. Severe daytime somnolence affects patients' activities and it may facilitate the occurrence of seizures. These considerations underline the importance of antiepileptic drugs having anticonvulsant properties that do not negatively influence sleep and daytime somnolence. In this paper we review some relevant aspects of the effects of antiepileptic drugs on sleep.

Our objective was to determine, in three separate studies, the effects of controlled-release carbamazepine (CBZ-CR), lamotrigine (LTG), and gabapentin (GBP) on nocturnal sleep in epilepsy. Antiepileptic drugs (AEDs) control seizures and also modify hypnic structure. Despite widespread clinical use, their effects on sleep are not well known. PSG was performed in all three studies as follows: CBZ-CR: at baseline, after initial administration of CBZ-CR 400 mg, and after 1 month of CBZ-CR treatment (400 mg BID) in a sample of seven temporal lobe epileptic (TLE) patients. Results were compared with those of nine healthy volunteers; LTG: at baseline, after 3 months of stable treatment with LTG (300 mg/day); GBP: at baseline, after 3 months of stable treatment with GBP (1800 mg/day). Significant findings are as follows for each study. The acute administration of CBZ-CR increased number of stage shifts, reduced REM sleep, and increased REM sleep fragmentation. In the TLE group, these effects were almost completely reversed after chronic treatment. LTG increased REM sleep, reduced number of entries into REM sleep, decreased number of phase shifts, and decreased percentage of slow-wave sleep. GBP increased REM sleep percentage, increased mean duration of REM periods, reduced number of awakenings, and reduced stage 1 sleep percentage. We conclude that CBZ-CR disrupts REM sleep, but only during acute administration. LTG and GBP improve sleep stability while reducing seizures.

We report the case of a 41 year-old woman with a slight mental retardation and epilepsy. MRI showed a diffuse subependymal heterotopia. The cognitive level supports the view that the ectopic cells are probably not important for the normal cortical functions but that they are likely able to maintain some of the electric properties of normal neurons, even if with altered discharge modalities. The genetic etiology of subependymal neuronal migration disorders is discussed. This is the second reported case of diffuse subependymal heterotopia in a female patient.

We report a mentally retarded 30-year-old woman with partial trisomy of chromosome 9 (46, XX-6, +der(6)t(6,9)pat) who has had epilepsy since age 11 months. She had been treated with various combinations of drugs. After 1 year of treatment with valproate (VPA) and ethosuximide (ESM), the patient developed arthralgias, muscle weakness, fatigue, and fever. Laboratory examination showed increased sedimentation rate, hypergammaglobulinemia, and high titers of antinuclear antibodies (ANA). The possibility of VPA-induced systemic lupus erythematosus (SLE) was considered. This diagnosis was supported by detection of antihistone antibodies and the HLA-DR4 antigen. VPA dosage was tapered and discontinued, with accompanying resolution of clinical, immunological and hematological signs of SLE 6 weeks after VPA discontinuation. This is the fourth reported case of VPA-induced SLE.

To test the hypothesis that fluoxetine may be a useful adjunct to antiepileptic therapy, we treated with fluoxetine (20-40 mg/day) nine patients suffering from medically intractable epilepsy with daily seizures. Five patients remained unchanged and four worsened. Worsening was more evident at 40 mg/day. One patient improved when receiving the lower dose (20 mg/day) and worsened with the higher dose (40 mg/day). These data suggest: (1) that fluoxetine is not effective as add-on antiepileptic treatment; (2) that caution should be exerted when using fluoxetine as an antidepressive treatment in epileptic patients.

Objectives – The aim of our study was to evaluate possible changes in nocturnal sleep, daytime somnolence and cognitive functions induced by add‐on therapy with lamotrigine (LTG). Material and methods – Thirteen patients affected by seizures resistant to common antiepileptic drugs (AEDs) underwent nocturnal polysomnographic monitorings, daytime somnolence evaluations and a neuropsychological battery before and after 3 months of treatment with LTG. Results – With LTG therapy we observed a significant increase in REM sleep and a significant reduction in the number of entries into REM and stage shifts. No significant correlation was observed between the decrease in nocturnal epileptiform activity and the increase in REM sleep. Other sleep parameters were unmodified. No significant changes were observed in daytime somnolence and in cognitive performances. Conclusion – LTG may produce positive effects on epileptic seizures and interictal abnormalities without interfering negatively on REM sleep, with improvement of sleep stability and without changes in daytime somnolence and neuropsychological performances. For these reasonsit could be an important drug for improving epileptic patients'quality of life. [ABSTRACT FROM AUTHOR]