Benign Occipital Epilepsy: A Family Study

Benign occipital epilepsy is a newly recognized form of partial epilepsy in children. It is characterized by motor seizures preceded in some cases by visual symptoms and a relatively benign course. We present three siblings with this condition and a fourth with the EEG abnormalities. A family study including 25 relatives demonstrated a typical EEG abnormality in 26% of relatives. These EEG changes were more evident in younger members. These findings suggest an autosomal dominant pattern for the EEG abnormalities with age-dependent expression and variable penetrance of the seizure disorder.     

Incidence of Drug-Induced Aggravation in Benign Epilepsy with Centrotemporal Spikes

PURPOSE: Benign epilepsy with centrotemporal spikes (BECTS) is characterized by an excellent prognosis. Drug therapy is necessary in only a minority of patients. Carbamazepine (CBZ) and phenobarbital (PB) have been reported to cause electroclinical aggravation in some cases. The incidence of drug-induced aggravation in BECTS has never been established. METHODS: We retrospectively studied 98 consecutive cases of BECTS, examined at the Centre Saint Paul between 1984 and 1999; 82 patients had received one or more treatments, often successively and in association. RESULTS: We found only one case of electroclinical aggravation with CBZ among 40 patients exposed to CBZ (35 in monotherapy, five in polytherapy). An additional case showed a marked EEG aggravation on CBZ + PB among 14 patients taking PB (nine with monotherapy and five with polytherapy), and PB was apparently responsible. No patient treated with valproate or benzodiazepines showed aggravation. CONCLUSIONS: Aggravation of BECTS caused by antiepileptic drugs happens only rarely. There is a minor risk of aggravation with CBZ and also probably with PB. Drug-induced aggravation may occur only during certain periods coinciding with spontaneous worsening of BECTS.     

EEG of a Nocturnal Seizure in a Patient with "Benign Epilepsy of Childhood with Rolandic Spikes"

The first EEG recording is reported of a child with "benign epilepsy of childhood with Rolandic spikes" during a partial motor (facial) seizure, which occurred during Phase II of natural sleep.     

Seizure Semiology of Occipital Lobe Epilepsy in Children

Summary: Purpose: Occipital lobe epilepsy in children occurs as an idiopathic form, i.e., Benign Epilepsy with Occipital Paroxysms (BEOP), and a symptomatic form. This study attempted to determine whether seizure semiology could distinguish between the two forms. Methods: Fifty children (34 boys, 16 girls) with clinical seizures and interictal EEGs presenting occipital spikes were included consecutively in the study. Seizure onset was between the ages of 2 months and 15 years. Epilepsy was considered symptomatic when psychomotor retardation and/or abnormalities at neurological and/or neuroradiological examination were found: 17 children were classified as idiopathic, and the remaining 33 children were classified as symptomatic. Seizure semiology was assessed by means of a structured interview of the children and their parents, using a detailed questionnaire. Seizure semiology was determined to comprise motor (versive or other movements of the eyes, versive movements of the head, (hemiconvulsions), visual, other signs (e.g. vomiting and headache), and impairment of consciousness. Results: There were no statistically significant differences in seizure semiology between the two groups. Conclusions: Seizure semiology cannot distinguish between different forms of occipital lobe epilepsy: Further clinical examination, clinical neurophysiological investigations, and neuroimaging studies are needed for a correct classification.     

儿童良性癫痫伴中央颞区棘波放电患者的GRIN2A突变筛查及遗传特征分析

目的对儿童良性癫痫伴中央颞区棘波放电(BECTS)患者进行GRIN2A基因突变筛查,分析其在BECTS患者中的致病性和遗传特征。方法收集2012年6月~2014年12月期间我院诊断的BECTS患者,采用PCR扩增和一代测序方法筛查GRIN2A基因突变。结果在收集的53例BECTS患者中,发现4例存在GRIN2A杂合突变,其中1例患者同时具有2个GRIN2A基因突变位点。突变包括4个错义突变(c.2627TC,p.I876T;c.1341TA,p.N447K;c.4322CA,p.T1441N;c.1271CT,p.P424L)和1个剪切位点突变(c.415-38CT),且均为未见报道的新突变位点。除c.1271CT为新生突变、c.1341TA未能验证突变来源外,其余3个突变均为遗传性突变。突变率为7.5%,外显率为75%。经保守性分析,发生错义突变的氨基酸变化位点均为高度保守。结论GRIN2A可能是BECTS的致病基因。GRIN2A突变存在不完全外显,临床进行遗传咨询时应引起高度重视。     

Dipole Reversal: An Ictal Feature of Benign Partial Epilepsy with Centrotemporal Spikes

Benign epilepsy with centrotemporal spikes (BECTS) is characterized by brief stereotypical partial seizures with motor and/or sensory symptoms with frequent secondarily generalized seizures. The interictal EEG shows slow, disphasic, high-voltage spikes in the centrotemporal areas. The few published examples of ictal tracings depict focal rhythmic sharp waves and spikes without significant postictal slowing. We report an ictal event in BECTS that is unusual in the evolution and polarity of the ictal discharges. In this subclinical seizure, ictal multiple spike and wave discharges appear as a dipole: they are electropositive in T3-C3 and negative in F3. These surface positive epileptic discharges are unique and require explanation. We postulate that the seizure discharge arises in the depths of the sylvian fissure involving folded cortical areas. This occurs in such a way that the negative component of the discharges is concealed from the scalp electrodes. Thus, a relative positivity is recorded on the surface. This represents a dipole reversal relative to the interictal discharges (characteristic of BECTS). This geometrical explanation allows us to avoid postulating an unusual mechanism of generation of this seizure.     

Prolonged Intermittent Drooling and Oromotor Dyspraxia in Benign Childhood Epilepsy with Centrotemporal Spikes

Prolonged isolated sialorrhea of epileptic origin was described by Penfield and Jasper (1954) in a patient with a lesional epilepsy. A child with prolonged but intermittent drooling, lingual dyspraxia, and other clinical and electroencephalographic (EEG) features compatible with benign childhood epilepsy with centrotemporal spikes (BCECS) is described. The fluctuant course of the symptomatology and correlation with the intensity of the paroxysmal discharges on EEG are consistent with an epileptic dysfunction located in the lower rolandic fissure. No lesion was demonstrated by magnetic resonance imaging (MRI). Our case bears analogies with the recently reported status epilepticus of BCECS and the "acquired aphasia-epilepsy syndrome."     

Study on the Early-Onset Variant of Benign Childhood Epilepsy with Occipital Paroxysms Otherwise Described as Early-Onset Benign Occipital Seizure Susceptibility Syndrome

PURPOSE: We studied the early-onset variant of benign childhood epilepsy with occipital paroxysms (EVBCEOP) proposed by Panayiotopoulos, to confirm whether his five criteria are sufficient to delineate EVBCEOP as a new epileptic syndrome, as well as to predict a good outcome prospectively at the time of the first examination. SUBJECTS: The subjects were 649 children with localization-related epilepsies (LREs) observed in our hospital for >4 years. METHODS: We applied the International Classification of Epilepsies and Epileptic Syndromes to the 649 patients and identified patients who had EVBCEOP from among those with nonspecific idiopathic LRE. The inclusion criteria were to satisfy all five criteria and all but one criterion (i.e., either ictal vomiting or occipital EEG paroxysms). We were blind as to the outcomes and selected patients who satisfied the following three of the five criteria at the time of the first examination, (a) normal development before the onset, (b) epilepsy onset age between 2 and 8 years, and (c) occipital EEG foci. We attempted to determine whether the outcome can be predicted prospectively, and whether the presence or absence of ictal vomiting affects the prognosis. RESULTS: We identified 19 patients who satisfied all five criteria, 22 who exhibited all but occipital EEG foci, and 21 who exhibited all but ictal vomiting. The incidence of status convulsivus was higher in those with ictal vomiting than in those without ictal vomiting (p < 0.05). Interictal EEG performed every 6 months showed shifting and multiplication of EEG foci in 42 and 52% of all subjects, respectively. We identified 57 patients, 42 (74%) of whom were in remission by age 12 years. The number of patients who experienced remission did not differ significantly between those with (76%, n = 25) and without (72%, n = 32) ictal vomiting (p > 0.05). CONCLUSIONS: Nosologically, EVBCEOP appears to constitute the earliest form of idiopathic epileptic syndrome different from classic BCEOP. However, its clinical spectrum, ranging from the absence of ictal vomiting to a combination of extraoccipital and multifocal EEG foci, is broad, such that further prospective study is expected to reveal the exact prerequisite criteria for determining the border of this epileptic syndrome and for clarifying the clinical spectrum within this syndrome.     

Benign Partial Epilepsy with Centrotemporal (or Rolandic) Spikes and Brain Lesion

We describe three patients with benign partial epilepsy with centrotemporal spikes (BECT) in association with proven brain lesion (agenesis of the corpus callosum, lipoma of the corpus callosum, and congenital toxoplasmosis, respectively). The age of onset, the ictal signs, the interictal electroencephalographic findings and the favorable outcome of epilepsy even after withdrawal of drug therapy led to the diagnosis of BECT although organic brain lesions were present. In such cases, the epilepsy should not be ascribed to the lesions but should be considered benign even though fortuitiously associated with brain lesions.     

Benign Childhood Epilepsy with Centrotemporal Spikes and Hippocampal Atrophy

A boy without significant family or personal history had three consecutive nocturnal seizures at 1-month intervals at age 10 years, all simple focal seizures with motor and sensory symptoms, the last with secondary generalization. Waking and napping EEG showed focal sharp changes typical of benign epilepsy with centrotemporal spikes (BECTS). A magnetic resonance imaging documented a marked right hippocampal atrophy (HA). After valproic acid (VPA) therapy, there were no more seizures, and there were fewer EEG changes. An EEG performed in the younger, fully asymptomatic 8-year-old sister documented unilateral right focal sharp waves. This case shows that HA, as well as other central nervous system lesions, can be found fortuitously in patients with BECTS.     

Clinical Usefulness of the Dipole Tracing Method for Localizing Interictal Spikes in Partial Epilepsy

Summary: Purpose: To clarify the clinical usefulness of the dipole tracing method in evaluation of interictal EEG spikes in patients with partial epilepsy.
Methods : Eight patients with partial epilepsy were studied. We compared the generator source of interictal spikes detected by the dipole tracing method with the results of magnetic resonance imaging (MRI), interictayictal measurement of cerebral blood flow (CBF) by single photon emission computed tomography (SPECT), interictal measurement of glucose metabolism by positron emission tomography (PET) and invasive electrocorticogram (ECoG).
Results : In 5 patients with mesial temporal lobe epilepsy (TLE), including 3 patients who underwent standard temporal lobectomy, the dipole tracing method showed results consistent with those of other examinations and better correlation with ECoG than with other noninvasive examinations. In a patient with mesial TLE who had defects in the skull due to previous surgery, the dipoles were located more laterally than expected. In a patient with frontal lobe epilepsy (FLE) who was finally proved to have an epileptogenic area in the lateral frontal area, the spike dipoles were identified in the medial side of the frontal lobe.
Conclusions : The dipole tracing method used in the present study is useful for localizing epileptogenic areas in patients with mesial TLE. However, in patients with partial skull defects and in those with FLE, the reliability of this method is still in accuracy of the lobe level.     

Benign Familial Neonatal Convulsions Followed by Benign Epilepsy with Centrotemporal Spikes in Two Siblings

Summary: Purpose: To report on sibling cases with benign familial neonatal convulsions (BFNC) followed by benign epilepsy with centrotemporal spikes (BECT).
Methods: Case histories and EEGs were obtained for the two siblings with neonatal and subsequent epileptic seizures in one pedigree with BFNC.
Results: The family included six affected cases of BFNC in two generations: the proband, the proband's mother and two sisters, and the proband's maternal uncle and his daughter. The proband developed a generalized tonic convulsion 2 days after birth with no apparent cause and normal interictal EEG, and experienced a total of 18 episodes of tonic or clonic seizures or both by age 9 months. In the follow-up course, an EEG recording showed rolandic discharges at 2 years, and a sylvian seizure occurred at 4 years during sleep. On carbamazepine therapy, the last seizure was recorded at 9 years after a total of 11 episodes of sylvian seizures, with normal EEGs after 12 years. The proband's sister experienced nine episodes of brief tonic seizures between 7 and 9 days after birth, and also developed eight episodes of sylvian seizures from 4 to 7 years, with rolandic discharges on EEG until age 9 years. All of the family members had normal psychomotor development, with no neurologic sequelae.
Conclusions: This report of BFNC followed by BECT in sibling cases is significant in view of the genetic analysis and the classification of epilepsies and epileptic syndromes.     

An Autopsy Case of Alzheimer Disease with Myoclonus and Periodic Spikes on EEG

This is a case of Alzheimer disease with myoclonus and periodic spikes on EEG. A 56-year-old man developed progressive dementia and, 3 years later, generalized convulsions. Eight years later, he showed myoclonus and periodic spikes on EEG. Cranial CT showed cortical atrophy and ventricular dilatation. He became apallic and died of pneumonia at the age of 65,9 years after the onset of the disease. The brain weighed 1,050 g. Neuropathologically, diffuse neuronal loss, abundant neurofibrillary tangles and senile plaques, particularly diffuse plaques, were found extensively in the cerebral cortex. The white matter was preserved. In the Ammon's horn, abundant neurofibrillary tangles and senile plaques were observed. Grumose degeneration of the cerebellar dentate nucleus, Kuru plaques or prions were not found. Numerous diffuse plaques of the cerebral cortex have rarely been reported in autopsy cases of Alzheimer disease with myoclonus and periodic spikes on EEG.     

The Absence of Interictal Spikes with Documented Seizures Suggests Extratemporal Epilepsy

PURPOSE: To determine the demographic and clinical characteristics of patients who have documented epileptic seizures on long-term video-EEG monitoring who do not have interictal spikes. METHODS: The records of 1,223 monitoring studies from 919 patients who underwent noninvasive long-term video-EEG monitoring were reviewed. In 28 patients (3.0% of monitored patients, 4.4% of patients with electrographic evidence of epilepsy), no interictal spikes were found despite the occurrence of at least one recorded electrographic seizure. The demographic, medical, neuropsychological, and EEG data of these patients were compared with those of 28 matched control patients with documented interictal spikes. RESULTS: Extratemporal seizures were significantly more frequent in the patients with at least one recorded epileptic seizure but without interictal spikes compared with patients with epileptic seizures and interictal spikes (p = 0.031). The only other significant difference between the groups (p = 0.016) was a later age at seizure onset (18.3 vs. 10.7 years) for the patients without interictal spikes. Age at evaluation, gender, handedness, clinical seizure type, family history of epilepsy, history of febrile seizures, neuropsychological testing, and neurologic and psychiatric history did not differ between the two groups. CONCLUSIONS: In patients with documented epilepsy without interictal spikes on EEG monitoring, the possibility of an extratemporal focus should be considered.     

Benign Epilepsy of Childhood With Centrotemporal Spikes

Summary: Benign epilepsy of childhood with centrotemporal spikes (BECT) is the most common partial epilepsy syndrome in the pediatric age group, with an onset between age 3 and 13 years. The typical presentation is a partial seizure with paresthesias and tonic or clonic activity of the lower face associated with drooling and dysarthria. Seizures commonly occur at night and may become secondarily generalized. They are usually infrequent and may not require antiepileptic drugs but, if treated, they tend to be easily controlled. Children with BECT are neurologically and cognitively normal. The EEG shows characteristic high-voltage sharp waves in the centrotemporal regions, which are activated with drowsiness and sleep. In this typical form, BECT is easily recognized. However, atypical cases are common and the definition of BECT can become blurred. Although further investigations are not required in cases with typical clinical and EEG findings and normal neurologic examinations, neuroimaging studies may be required in atypical cases to rule out other pathology. The long-term medical and psychosocial prognosis of BECT is excellent, with essentially all children entering long-term remission by mid-adolescence.     

Clinical Relevance of a Dipole Field in Rolandic Spikes

The clinical presentation of 366 children with rolandic spikes was examined to determine whether the presence of a temporal-frontal dipole field is associated with a lower incidence of clinical abnormality. Comparisons were made between the clinical presentation of 99 children with temporal-frontal dipole discharges versus 267 children with nondipole rolandic discharges. Criteria examined were birth history, developmental milestones, school history, total number of seizures, neurological examination, and computed tomography (CT) findings. For all clinical parameters, except birth history and CT finding, there was a lower incidence of clinical abnormality in the group with dipole discharges (p less than 0.001). The clinical profile seen with temporal-frontal dipole discharges was very different than with nondipole rolandic spikes. Children with dipole discharges less often presented with frequent seizures (10%), developmental delay (18%), school difficulties (34%), or abnormal neurological exam (22%). In contrast, children with nondipole rolandic discharges often presented with a history of frequent seizures (55%), developmental delay (55%), school difficulties (60%), and an abnormal neurological exam (63%). The incidence of clinical abnormalities in the nondipole group exceeded that found in our control population in all areas. Temporal-frontal dipole discharges are associated with a lower incidence of clinical abnormality than are nondipole rolandic spikes. These discharges may represent a benign functional focus.     

Prognosis of Benign Childhood Epilepsy with Centrotemporal Spikes: A Foliow-Up Study of 168 Patients

A spontaneous and complete recovery of benign childhood epilepsy with centrotemporal or rolandic spikes (BECT) is taken for granted. However, some authors have reported the occurrence of generalized tonic-clonic seizures in a few adult patients and in some children who have seizures after a long period without problems. The aims of this study were (a) to search for early predictors of outcome and (b) to ascertain the long-term prognosis of BECT in a large group of patients. An attempt to relocate 268 patients born between 1941 and 1967 and consecutively seen as outpatients was undertaken. The outcome after age 20 is known for only 168. Being adults and cured, the others are no longer in touch with their clinics or have moved. Only one indicator of short-term prognosis was found: The earlier the onset of BECT, the longer the period with seizures. Of the 168 patients, 165 are seizure-free with follow-up ranging from 7 to 30 years. Three patients experienced generalized tonic-clonic seizures at age 18, 22-24, and 35. Two apparently had an isolated seizure. The occurrence of such seizures after recovery from BECT is a rare event (approximately 2% of cases) and a relapse with partial seizures is quite uncommon. These patients do not differ from patients remaining seizure-free.     

Perineuromal Stimulation in the Treatment of Occipital Neuralgia: a Case Study

This case study is presented to exemplify the application of a perineuromal approach in the treatment of recalcitrant occipital neuralgia. The patient was a 49‐year‐old female with severe and disabling occipital neuralgia. The pain persisted despite several surgical procedures, injections in the affected area, and medications. Threading the electrode into the cervical epidural space and attempts at peripheral stimulation using the Weiner and Reed approach were unsuccessful. Immediate benefit was derived when the electrode was advanced subcutaneously and positioned underneath the neuroma apparently created by a C2 nerve transection. A Medtronic Octad (model #3898) was utilized. The patient was contacted at seven and nine months post implantation. She reported 90% improvement in her pain. The improvements were also noted in numerical pain ratings, Beck Depression Inventory, and Oswestry Disability Scale. These improvements were corroborated by her husband. The Minnesota Multiphasic Personality Inventory (MMPI) remained relatively unchanged. This case illustrates the possible utilization of perineuromal stimulation in the treatment of occipital neuralgia. The specific mechanism of action remains unclear. Replication and controlled studies are required to determine the general applicability of this approach.