Summary:Purpose: Childhood epilepsy with occipital paroxysms (CEOP) is characterised by ictal visual hallucinations and occipital epileptiform activity on interictal EEG. A variant has been described with nonvisual symptoms including tonic head and eye deviation, vomiting, and episodes of partial status epilepticus. We fully documented the electroclinical features of such patients to determine whether classification separate from CEOP is justified.Methods: This was a multicentre study with participating investigators submitting details of patients with idiopathic occipital seizures characterised by ictal head or eye deviation and vomiting.Results: One hundred thirteen patients were recruited. Seizures began in early childhood (mean, 4.6 years) and occurred infrequently (mean total seizures, 3); 30% of patients had only a single seizure. Two thirds of seizures were nocturnal. Ictal eye deviation occurred in 79%, vomiting in 70%, and head deviation in 35%. Seizures were predominantly complex partial in type. Partial status epilepticus occurred in 44% of patients. Seventy-four percent of patients had occipital interictal EEG epileptiform activity, predominantly right sided, with fixationoff sensitivity. Extraoccipital EEG abnormalities occurred in 35% of patients. Prognosis was excellent: the mean duration of active seizures was 1 year.Conclusions: Although the two groups shared identical EEG features, the distinct clinical symptoms probably justify separate classification. Early-onset benign occipital seizure syndrome (EBOSS) is suggested as an appropriate name for the variant group. Key Words: Benign epilepsy-Partial seizures-Occipital seizures-Aversive seizures-Status epilepticus.The syndromic approach to the epilepsies has been a major nosologic advance (1,2). In children with and without seizures, occipital spikes that disappear with age were noted by Gibbs et al. more common form of benign CEOP occurring in younger children with infrequent, predominantly nocturnal seizures manifested by tonic deviation of the eyes and vomiting and often first seen as partial motor status epilepticus. Despite similar accounts by others (16-23), recognition of this early-onset variant of CEOP has been delayed. Furthermore, reservations have been expressed about the benign character of CEOP after reports that EEG occipital abnormalities related to the eyes-closed state may also occur in lesional epilepsies (24-26), in the visually impaired (27), and in normal children (28).The purpose of this report is to document fully the clinical features of occipital childhood epilepsy characterised by ictal tonic deviation of the eyes and vomiting, rather than with ictal visual hallucinations, to determine whether these are sufficiently distinctive to warrant classification separate from CEOP. METHODThe study was a collaborative project: Participating investigators collected details of patients with idiopathicoccipital seizures seen over the last 10-to 20-year period. Inclusion criteria were the occurrence of occipital seizures characterise...

West syndrome (WS) is characterized by infantileonset flexor and extensor spasms, an EEG pattern of a high amplitude with asynchronous activity of spikes and theta/delta waves (hypsarrhythmia), and impaired psychomotor development. 1 In about 70%-80% of the children, WS develops as a consequence of metabolic disorders or brain lesions, but in many cases the etiology is unknown. 2Methods. See also appendices e-1 (Methods) and e-2 (case descriptions) on the Neurology ® Web site at www.neurology.org. We screened by high-resolution comparative genomic hybridization (array-CGH) 38 (20 male, 18 female) consecutively collected patients with WS of unknown etiology (table e-1). Diagnosis was based on 1) absence of prenatal or postnatal etiologic factors, 2) normal development and absence of neurologic abnormalities before the onset, and 3) normal laboratory and MRI findings at onset.

Summary:Objectives: Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene.Materials and Methods: Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers.Results: Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G→A (resulting in the amino acid substitution R182 H) cosegregated with JME.Conclusions: The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.

Objective: To analyse a population of children with focal cortical dysplasia operated on for drug resistant partial epilepsy, with emphasis on clinical features, seizure semiology, interictal and ictal EEG and stereo EEG findings, histological and topographical characteristics of the lesions, extension and localisation of cerebral excision, and its postoperative effect on seizure frequency. Methods: 10 patients were studied, aged between 26 months and 11 years (median 6 years). Magnetic resonance imaging (MRI) abnormalities were unilobar (temporal 3, frontal 2), bilobar (2), or multilobar (1); the two patients with negative MRI suffered from frontal seizures. Presurgical diagnostic steps varied in complexity and invasiveness depending on the anatomical/electrical/clinical features of each patient. In four patients they included only scalp video EEG monitoring, and in six, also invasive recordings using stereotactically implanted intracerebral electrodes. Surgery consisted of corticectomy plus lesionectomy in all cases. Results: 70% of the patients were seizure-free after a minimum postoperative follow up of 25 months. These included three patients with temporal lesions and four of seven patients with other lobar or multilobar extratemporal localisation. One patient had improvement in seizure control. Outcome was poor in multilobar patients, but a class Ia outcome was obtained in one case after partial lesionectomy associated with bilobar corticectomy. All patients showed developmental improvement. Conclusions: Analysis of the data in these patients allowed the production of an ''anatomical-clinical concordance'' list, which appeared to be correlated with the diagnostic steps performed. Carrying out a stereo EEG exploration in the most complex cases proved useful in defining the epileptogenic zone in extratemporal and multilobar epilepsies. Stereo EEG recordings facilitated a tailored resection of extralesional cortex.

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