Veysi Demirbilek

Panayiotopoulos syndrome : a consensus view

The aim of this paper is to promote the correct classification of, and provide guidelines on, the diagnosis and management of Panayiotopoulos syndrome (PS). An international consortium of established researchers in the field collaborated to produce a consensus document. The resulting document defines PS, characterizes its electro‐clinical features, considers its likely pathogenesis, and provides guidance on appropriate management. We conclude that PS is a common idiopathic, benign seizure disorder of childhood, which should be classified as an autonomic epilepsy, rather than an occipital epilepsy.

Autonomic status epilepticus in panayiotopoulos syndrome and other childhood and adult epilepsies: A consensus view

Summary:  Purpose: To discuss and propose a definition of autonomic status epilepticus (SE), describe its clinical and EEG features, and review what is known about its epidemiology, pathophysiology, differential diagnosis, and management.

Benign rolandic epilepsy: neuropsychological findings

Benign rolandic epilepsy (BRE) is a partial idiopathic epilepsy of childhood presenting with a nocturnal seizure and with a typical EEG showing centrotemporal spike and multifocal or generalized sharp slow waves. Although normal neurological and intellectual development are expected in BRE, it is not infrequent to detect subtle defects in neuropsychological functions and neuromotor development. This study included 20 cases of BRE diagnosed according to the criteria of ILAE. The patients underwent several tests of neuropsychological functions as well as detailed neurological examination and the results were compared statistically to normal controls. In the patient group, a family history of language delay or learning disability (P < 0.005), presence of consanguinity (P < 0. 05), dyspraxia in the lower extremities (to imitation) (P < 0.05), difficulties in go-no-go test (P < 0.001), as well as some problems related to language such as dysprosody (P = 0.05), minor motor deficits in the left (P < 0.05) and right upper extremity (P < 0.05) were significantly more frequent compared to the control group. One should be rather guarded against the prognosis in BRE with respect to the higher cortical functions and neurodevelopmental problems.

A Clinical and EEG Study on Idiopathic Partial Epilepsies with Evolution into ESES Spectrum Disorders

Summary:  Purpose: Questioning the presence of any possible prognostic predictors, this study includes a long‐term follow‐up of clinical and EEG characteristics of 16 patients with idiopathic partial epilepsy (IPE) who subsequently developed epilepsy with electrical status epilepticus during slow sleep (ESES) spectrum disorders.

Neuropsychological Functions in Idiopathic Occipital Lobe Epilepsy

Summary: Purpose: Despite the benign prognoses of idiopathic partial epilepsies, particularly regarding the response of seizures to treatment, some evidence now exists that patients with such disorders may have subtle neuropsychological deficits. This study was designed to investigate several modalities of neuropsychological functioning in a group of 21 patients, ranging from 6 to 14 years of age, with idiopathic occipital lobe epilepsy (IOLE). The case patients were compared with 21 healthy controls matched for age, sex, and socioeconomic status.

Recessive LAMC3 mutations cause malformations of occipital cortical development

The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral occipital cortical gyration abnormalities. By using whole-exome sequencing, we initially identified a homozygous 2-bp deletion in LAMC3, the laminin γ3 gene, leading to an immediate premature termination codon. In two other affected individuals with nearly identical phenotypes, we identified a homozygous nonsense mutation and a compound heterozygous mutation. In human but not mouse fetal brain, LAMC3 is enriched in postmitotic cortical plate neurons, localizing primarily to the somatodendritic compartment. LAMC3 expression peaks between late gestation and late infancy, paralleling the expression of molecules that are important in dendritogenesis and synapse formation. The discovery of the molecular basis of this unusual occipital malformation furthers our understanding of the complex biology underlying the formation of cortical gyrations.

Interleukin (IL)-12, IL-2, interferon-γ gene polymorphisms in subacute sclerosing panencephalitis patients

Mutated measles virus variants have been claimed as the causing agent for subacute sclerosing panencephalitis (SSPE) developing several years after the recovery from measles infection. However, immune dysfunction may be considered related to a genetic susceptibility to this rare disease. Interleukin (IL)-2 -330 (rs2069762) and +160 (rs2069763), IL-12 p40 3′ UTR (rs3213113), and interferon (IFN)-γ+874 (rs2430561) polymorphisms are screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and PCR-sequence-specific priming (SSP) methods in 87 SSPE patients and 106 healthy controls (HCs) as candidate genes of susceptibility. The distribution of the IL12B genotypes (rs3213113) showed a trend for a significant difference (P = .053). The frequency of IL12B C allele (P = .04, OR: 1.6) and CC genotype (P = .03, OR: 3.2) were both higher in SSPE patients than in HC. The IL2 −330 genotypes revealed lower frequencies of GG genotype (P = .03, OR: 0.4) as well as G allele (P = .02, OR: 0.6) in SSPE. IL2 −330+160 TG haplotype was more frequent in patients (P = .005, OR: 1.8), whereas GG haplotype was less frequent, compared to controls (P = .02, OR: 0.6). IFNG +874 polymorphism revealed no difference. These findings implicate possible effects of genetic polymorphisms in the susceptibility to SSPE, which need to be confirmed in other populations.

A retrospective analysis of patients with febrile seizures followed by epilepsy

This study was performed to investigate some clinical parameters of febrile seizures (FSs) in patients with epilepsy, testing any possible correlation between those parameters and the type of subsequent epilepsy. One hundred and nine patients with epilepsy having a history of FSs were evaluated for age at onset of FSs, interval between first FS and first afebrile seizure, recurrence rate, type of FSs, incidence of febrile status, family history for epilepsy and for FSs and the neurological status of the patient. The epilepsy that developed subsequently, were classified as generalised versus partial and also according to their syndromic subgroups. In temporal lobe epilepsy with mesial temporal sclerosis (TLE-MTS), statistical analyses revealed a younger age at onset of FSs, and a high incidence of episodes of febrile status and of complex FSs. Clinical characteristics of FSs followed by partial epilepsies were younger age at onset, presence of focal features and of febrile status, longer interval between the first FS and the first afebrile seizure, and a high incidence of FSs in the family history. In generalised epilepsies, however, a shorter interval between the first FS and the first afebrile seizure, a high incidence of single FS and of a family history of epilepsy were predominating characteristics. Results suggest that certain features of FSs may be predictive of a particular type of subsequent epilepsy.

EEG abnormalities in West syndrome: Correlation with the emergence of autistic features

Autism may develop in children with West syndrome. This study was conducted to determine if EEG abnormalities in patients with West syndrome predict the later onset of autism. Two groups of patients with West syndrome, older than 6 years of age, were studied. One group consisted of those with a past history of West syndrome plus autism (N=14); the control group consisted of those with a past history of West syndrome but without autism (N=14). Patients were followed at regular intervals and video-EEG recordings were done. A total of 108 (autistic group) and 123 (non-autistic group) video-EEGs were examined. The two groups were compared with respect to age, presence or absence of hypsarrhythmia, and characteristics and localization of the epileptogenic foci. chi2 and Fishers exact tests were used. The number of patients with at least one hypsarrhythmic EEG at the age of one year or later was significantly higher in autistic subjects (86%) than in non-autistic controls (29%). The incidence of EEGs with hypsarrhythmia was also higher in the autistic group, especially in older children (autistic, 49% versus non-autistic, 18% at age 3 years and later). Frontal predominance of the primary foci on EEGs with or without hypsarrhythmia was seen in 95.3% of the autistic group and 28.8% of the non-autistic group (p=0.001). Frontal abnormalities on the EEGs, which were mainly bilateral, and the persistence of hypsarrhythmia were significantly related to the emergence of autistic behavior in patients with West syndrome. These findings suggest that paroxysmal discharges in the cortical areas undergoing rapid maturation may be involved in the development of autistic features.

Subacute sclerosing panencephalitis surveillance study in Istanbul

The exact incidence rate of subacute sclerosing panencephalitis (SSPE) in Turkey (and in Istanbul) is not known. We have conducted an active surveillance study to determine the epidemiological characteristics and the incidence rate of SSPE in Istanbul between the dates July 1, 2002 and July 1, 2004. We found that the incidence of SSPE in Istanbul is 2 per million. By logistic regression analysis, risk factors in SSPE development are determined as being at younger ages (OR: 1.199, 95%CI=1.047-1.372, P=0.009), living in crowded households (OR: 1.430, 95%CI=1.039-1.968, P=0.028), low education level of the mother (OR: 0.123, 95%CI=0.034-0.447, P=0.001), low household income (OR: 0.413, 95%CI=0.234-0.728, P=0.002), infants being born out of Marmara region (Istanbul is in Marmara region of Turkey) (OR: 0.358, 95%CI: 0.172-0.746, P=0.006), infants not being vaccinated against measles (OR: 0.495, 95%CI: 0.312-0.786), infants having had measles before (OR: 0.235, 95%CI: 0.135-0.411). As a result, it is found in this study that SSPE is mostly related to having measles infection, and measles vaccination is found to be highly protective against SSPE. This is the first epidemiological study in SSPE from Turkey that conveys the incidence rate in Istanbul.