Clinical and genetic analysis of a Chinese pedigree affected with benign familial neonatal convulsion / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic variant in a Chinese pedigree affected with benign familial neonatal convulsion (BFNC).@*METHODS@#Clinical data and peripheral blood samples of the pedigree were obtained with informed consent. Whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The pedigree comprised 9 individuals, among whom 4 were affected, including 3 males and 1 female. All patients had developed seizures during the neonatal period, which had ceased in 4 to 6 months. One patient had recurrence in between 1 and 2 years old. Genetic testing has identified a novel nonsense c.810G>A (p.W270X) variant in exon 5 of the KCNQ2 gene, which has co-separated with the BFNC phenotype in the pedigree.@*CONCLUSION@#The patients from this pedigree have conformed to the diagnosis of BFNC with good prognosis, which was in keeping with previously reported cases. The heterozygous c.810G>A (p.W270X) nonsense variant of the KCNQ2 gene probably underlay the pathogenesis of BFNC in this pedigree, which has expanded the mutational spectrum of the disease.

Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions / 医学前沿

Proline-rich transmembrane protein 2 (PRRT2) is the leading cause of paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), and infantile convulsions with choreoathetosis (ICCA). Reduced penetrance of PRRT2 has been observed in previous studies, whereas the exact penetrance has not been evaluated well. The objective of this study was to estimate the penetrance of PRRT2 and determine its influencing factors. We screened 222 PKD index patients and their available relatives, identified 39 families with pathogenic or likely pathogenic (P/LP) PRRT2 variants via Sanger sequencing, and obtained 184 PKD/BFIE/ICCA families with P/LP PRRT2 variants from the literature. Penetrance was estimated as the proportion of affected variant carriers. PRRT2 penetrance estimate was 77.6% (95% confidence interval (CI) 74.5%-80.7%) in relatives and 74.5% (95% CI 70.2%-78.8%) in obligate carriers. In addition, we first observed that penetrance was higher in truncated than in non-truncated variants (75.8% versus 50.0%, P = 0.01), higher in Asian than in Caucasian carriers (81.5% versus 68.5%, P = 0.004), and exhibited no difference in gender or parental transmission. Our results are meaningful for genetic counseling, implying that approximately three-quarters of PRRT2 variant carriers will develop PRRT2-related disorders, with patients from Asia or carrying truncated variants at a higher risk.

Características clínicas, electroencefalográficas, terapéuticas y recurrencia de la epilepsia en el lactante / Clinical, therapeutic, electroencephalographic characteristics and recurrence of epilepsy in nursing babies

Introducción: La epilepsia es motivo de consulta frecuente en los servicios de neuropediatría a nivel mundial, con incidencia máxima en el menor de un año, se asocia con retraso del neurodesarrollo y recurrencia de las crisis. Objetivo: Caracterizar a los lactantes con epilepsia según aspectos clínicos, electro-encefalográficos, terapéuticos y la recurrencia de las crisis epilépticas. Métodos: Estudio observacional, prospectivo y longitudinal en 50 lactantes con epilepsia ingresados en el Hospital William Soler: 2016 a 2018. Se analizaron variables demográficas, clínicas y paraclínicas, tratamiento y recurrencia a los seis meses de iniciado el tratamiento antiepiléptico. Resultados: El inicio de las crisis se presentó de 1 a 4 meses en 60 por ciento, con predominio del sexo masculino (60 por ciento). El 44 por ciento presentó retraso del neurodesarrollo global y 32 por ciento parálisis cerebral. Predominaron las crisis epilépticas generalizadas motoras espasmos epilépticos (32 por ciento); la epilepsia generalizada (60 por ciento), el síndrome epiléptico: el síndrome de West (32 por ciento) y de etiología: desconocida (48 por ciento). El trazado electroencefalográfico más frecuente fue el generalizado (26 por ciento) seguido de hisparritmia (24 por ciento) La vigabatrina y el fenobarbital fueron los antiepilépticos más utilizados al inicio del tratamiento (24 por ciento cada uno. La recurrencia fue alta (62 por ciento). Conclusiones: La epilepsia en el lactante es más frecuente en varones y de inicio precoz. El retraso del neurodesarrollo global constituyó un factor asociado a la recurrencia de las crisis epilépticas. La parálisis cerebral, los hallazgos en estudios de neuroimagen y la etiología estructural son factores clínicamente significativos para la recurrencia(AU)

Introduction: Epilepsy is a reason of frequent consultation in neuropediatrics services at the global level, with peak incidence in infants of less than one year old. This is associated with neurodevelopmental delay and seizures recurrence. Objective: To characterize infants with epilepsy according to clinical, electro-encephalographic, therapeutic aspects and the seizures recurrence. Methods: Observational, prospective and longitudinal study in 50 infants with epilepsy whom were admitted in William Soler Hospital from 2016 to 2018. There were analysed demographic, clinical and paraclinical variables, and the treatment and recurrence six months after the beginning of the antiepileptic treatment. Results: The beginning of the seizures was at 1 to 4 months in the 60 percent, with predominance of males (60 percent). 44 percent presented global neurodevelopmental delay and 32 percent cerebral palsy. Generalized motor epileptic seizures and epileptic spasms predominated (32 percent); generalized epilepsy (60 percent), epilepsy syndrome: West syndrome (32 percent); and of unknown etiology (48 percent). The most frequent electroencephalographic tracing was the generalized one (26 percent) followed by hypsarrhythmia (24 percent). Vigabatrin and phenobarbital were the most commonly antiepileptic drugs used at the beginning of treatment (24 percent) each. Recurrence was high (62 percent). Conclusions: Epilepsy in the infant is more common in males and of early-onset. The delay in the global neurodevelopment was a factor associated with the recurrence of seizures. Cerebral palsy, findings in neuroimaging studies and the structural etiology are clinically significant factors for recurrence(AU).

Benign infantile convulsions associated with mild gastroenteritis: a clinical analysis and follow-up study / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical features and prognosis of benign infantile convulsions associated with mild gastroenteritis (BICE).</p><p><b>METHODS</b>A retrospective analysis was performed for the clinical data of 436 children with BICE, and among these children, 206 were followed up for 1.5 to 7 years. Some parents were invited to complete the Weiss Functional Defect Scale to evaluate the long-term social function.</p><p><b>RESULTS</b>The peak age of onset of BICE was 13-24 months, and BICE had a higher prevalence rate in September to February of the following year. Convulsions mainly manifested as generalized tonic-clonic seizures, which often occurred within 24 hours after disease onset and lasted for less than 5 minutes each time. Sometimes they occurred in clusters. During the follow-up of 206 children, only one had epileptiform discharge, and the other children had normal electroencephalographic results. The parents of all the 206 children thought their children had normal intelligence and had no marked changes in character. Based on the Weiss Functional Defect Scale completed by the parents of some BICE children, there was no significant difference in the long-term social function between BICE children and healthy children matched by age and sex.</p><p><b>CONCLUSIONS</b>BICE mainly occurs in children aged 1-2 years, with the manifestation of transient generalized seizures in most children and cluster seizures in some children. BICE seldom progresses to epilepsy and has good prognosis.</p>

PRRT2 gene-related paroxysmal disorders / 中华医学遗传学杂志

Proline-rich transmembrane protein 2 (PRRT2), the causative gene of paroxysmal kinesigenic dyskinesias (PKD), benign familial infantile seizures (BFIS) and infantile convulsions with paroxysmal choreoathetosis (ICCA), also causes a variety of neurological paroxysmal disorders. These diseases share the same characteristics which may be due to the same genetic defect. We therefore propose to name them as PRRT2-related paroxysmal disorders (PRPDs) in order to assist clinical diagnosis, treatment and prognosis. This paper has reviewed the clinical phenotype, common features and pathogenesis of the PRPDs.

Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the phenotypes and proline-rich transmenbrane protein 2 (PRRT2) gene mutations in patients of infantile convulsions with paroxysmal choreoathetosis (ICCA).</p><p><b>METHODS</b>Clinical data were collected from ICCA patients and their family members. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations of PRRT2 were screened using PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>Eleven families and one sporadic case with ICCA were recruited in this study. In 11 ICCA families, 49 family members were affected, of which 15 individuals had benign infantile convulsions (BIC) alone, 18 individuals had only paroxysmal kinesigenic dyskinesia(PKD), and 16 individuals had BIC followed by PKD. The seizure onset age of infantile convulsions was between 3 and 12 months. The onset age of PKD was ranging from 5 to 17 years old. Four affected members in two ICCA families had PKD or ICCA co-existing with migraine. The one sporadic ICCA case had afebrile seizures between 3.5 and 4 months, and developed paroxysmal twists of limbs after 3 years and 9 months of age. He had good response to treatment with oxcarbazepine at the age of 4 years and 10 months. PRRT2 mutations were identified in all 11 ICCA families. The most common mutation, c.649_650insC (p.R217PfsX8), was detected in 6 of the 11 families (54.5%). PRRT2 mutation (c.649_650insC) was also found in the sporadic ICCA case, and was identified as de novo mutation.</p><p><b>CONCLUSION</b>The phenotype of PKD in ICCA families occurred in childhood or adolescence. Few affected members in some ICCA families may have migraine. PRRT2 is the causative gene of ICCA and the mutation c.649_650insC was the hotspot of PRRT2 mutations. PRRT2 mutation was also found in sporadic case with ICCA.</p>

Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the phenotypes and proline-rich transmembrane protein 2 (PRRT2) mutations in families with benign familial infantile epilepsy (BFIE).</p><p><b>METHOD</b>Data of all BFIE probands and their family members were collected from Peking University First Hospital between September 2006 and August 2013. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations in PRRT2 were screened using PCR amplification and Sanger sequencing.</p><p><b>RESULT</b>Twenty-nine BFIE families were recruited in this study. In total, 110 family members were affected. The age of seizure onset of these affected members was between 2 and 12 months (median: 4.5 months). All probands presented with clusters of seizures. Two probands had one seizure induced by diarrhea respectively at 25 months and 31 months. In four BFIE families, four family members had a history of febrile seizures. PRRT2 mutations were found in 17 of the 29 (58.6%) BFIE families. Mutation c.649_650insC was detected in 12 of the 17 families with PRRT2 mutations. Mutation c.649delC (p.R217EfsX12) was identified in three families. Mutation c.323_324delCA (p. T108SfsX25) and c.904_ 905insG (p. D302GfsX39) were detected in one family, respectively.</p><p><b>CONCLUSION</b>The minimum seizure onset age of affected members in BFIE families was 2 months of age. The seizures often occur in clusters. PRRT2 is the major causative gene of BFIE in Chinese families. Mutation c.649_650insC is the hotspot mutation of PRRT2. A novel mutation c.323_324delCA was first reported in BFIE family. Few affected members with PRRT2 mutation presented with febrile seizures phenotype.</p>

Site-directed mutagenesis and protein expression of KCNQ2 gene associated with neonatal convulsions / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the protocol of construction of a KCNQ2-c.812G>T mutant and it's eukaryotic expression vector, the c.812G>T (p.G271V) mutation which was detected in a Chinese pedigree of benign familial infantile convulsions, and to examine the expression of mutant protein in human embyonic kidney (HEK) 293 cells.</p><p><b>METHODS</b>A KCNQ2 mutation c.812G>T was engineered on KCNQ2 cDNAs cloned into pcDNA3.0 by sequence overlap extension PCR and restriction enzymes. HEK293 cells were co-transfected with pRK5-GFP and KCNQ2 plasmid (the wild type or mutant) using lipofectamine and then subjected to confocal microscopy. The transfected cells were immunostained to visualize the intracellular expression of the mutant molecules.</p><p><b>RESULTS</b>Direct sequence analysis revealed a G to T transition at position 812. The c.812G>T mutation was correctly combined to eukaryotic expressive vector pcDNA3.0 and expressed in HEK293 cells. Immunostaining of transfected cells showed the expression of both the wild type and mutant molecules on the plasma membrane, which suggested that the c.812G>T mutation at the pore forming region of KCNQ2 channel did not impair normal protein expression in HEK293 cells.</p><p><b>CONCLUSIONS</b>Successful construction of mutant KCNQ2 eukaryotic expression vector and expression of KCNQ2 protein in HEK293 cells provide a basis for further study on the functional effects of convulsion-causing KCNQ2 mutations and for understanding the molecular pathogenesis of epilepsy.</p>

The First Korean Case of KCNQ2 Mutation in a Family with Benign Familial Neonatal Convulsions

Neonatal seizures represent a heterogeneous group of disorders with vastly different etiologies and outcomes. Benign familial neonatal convulsions (BFNC) are a distinctive epileptic syndrome of autosomal dominant inheritance with a favorable prognosis, characterized by the occurrence of unprovoked partial or generalized clonic seizures in the neonatal period or early infancy. Recently, mutations in two potassium channel genes, KCNQ2 and KCNQ3, have been described in this disorder. In this report, we describe a family with BFNC due to a KCNQ2 mutation, the first such family to be described in the Korean population. The diagnosis of BFNC can be made based on clinical suspicion and careful history taking with special emphasis on the familial nature of the disorder. KCNQ2 mutations may be associated with BFNC in a number of different races, as has been reported in other ethnic groups.

Linkage analysis and gene mapping of one Chinese family with benign familial infantile convulsions / 中国当代儿科杂志

<p><b>OBJECTIVE</b>The present study performed linkage analysis and gene mapping to find the possible chromosome locus harboring in one family with benign familial infantile convulsions (BFIC) and investigate the possible molecular pathogenesis of BFIC.</p><p><b>METHODS</b>A four-generation family with BFIC was investigated. The family was genotyped using eight hypervariable microsatellite markers covering four loci: D19S245 and D19S250 for the 19q12-13.1 region, D16S3131 and D16S3133 for the 16p12-q12 region, D2S156 and D2S286 for the 2q24 region, and D20S480 and D20S481 for the 20q13.3 region. Polymorphism fragments were amplified using polymerase chain reaction (PCR) method. PCR products for the markers were subjected to electrophoresis on 8% denatured polyacrylamide gel and silver staining for length judgment of amplification fragment. Linkage analysis was performed by use of MLINK in the LINKAGE computer package. Two-point LOD scores were calculated to estimate the linkage relationship.</p><p><b>RESULTS</b>The two-point LOD scores were less than -2.0 for the genetic markers at chromosomes 19q12-13.1, 16p12-q12 and 2q24 at the recombination rate between 0.000 and 0.01. The two-point LOD scores for D20S481 at the 20q13.3 region were 0.3 and 0.25 at the recombination rate of 0.000 and 0.01, respectively.</p><p><b>CONCLUSIONS</b>There is no evidence that this family with BFIC is linked to one of the following loci: 19q12-13.1, 16p12-q12 and 2q24, but a possible linkage with 20q13.3 region cannot be excluded.</p>

Two Cases of Benign Non - Familial Neonatal Convulsion

Benign idiopathic neonatal convulsion is a rare disorder which has no family history of convulsion and develops before and after the 5th day in a healthy full-term neonate. Its characteristics appear focal, or multifocal clonic seizures but rare tonic seizures lasting about several minutes. It reveals non-specific findings in neurologic examination, neuroimaging and EEG(electroencephalography) so that it should be differentiated from those diseases such as eletronic imbalance, inborn errors of metabolism, other neonatal epileptic syndromes. We report two healthy full-term female neonates presented with multifocal clonic seizures before and after the 5th day after birth. They had no family history of convulsion, fetal asphyxia, fetal and maternal problems and the neurologic examination and neuroimagings were normal. The convulsions were controlled by intravenous phenobarbital injection. They had no more convulsions ever since and showed normal development at the follow-up performed one year later. We experienced a rare disorder, benign neonatal convulsion in healthy full-term neonates. We hope this report will help its diagnosis and treatment and prevent unnecessary long- term anticonvulsant medication.

Seizures in the newborn.

Seizures in the newborn period constitute a medical emergency. Subtle seizures are the commonest type of neonatal seizures, other types being clonic, tonic, and myoclonic. Myoclonic seizures carry the worst prognosis in terms of long-term neurodevelopmental outcome. Hypoxic-ischemic encephalopathy is the most common cause of neonatal seizures. Multiple etiologies often co-exist in neonates and hence it is essential to rule out conditions such as hypoglycemia, hypocalcemia, and meningitis before initiating specific therapy. A comprehensive approach for management of neonatal seizures has been described.

Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the clinical and genetic characteristics of a Chinese family with benign familial convulsions (BFNC).</p><p><b>METHODS</b>The clinical data of this family was analyzed. The blood samples were collected from 13 members of this family. By four microsatellite markers which are located in the gene loci of both K+ channel KCNQ2 and KCNQ3, the linkage analysis was performed in the family. With DNA direct sequencing and restriction endonuclease cutting analysis, the mutation analysis of KCNQ3 gene was made for the proband, other 12 family members and 76 unrelated normal individuals.</p><p><b>RESULTS</b>There were 7 patients with BFNC observed in the three generation of family. The BFNC seizures of all patients disappeared during one month and no recurrence of seizures was found. The linkage analysis suggested the disease gene linked to KCNQ3 gene locus in the family. The mutation 988(C to T) of KCNQ3 gene was found in the proband by DNA-direct sequencing. Cosegregation of this mutation with BFNC was confirmed by restriction endonuclease cutting analysis.</p><p><b>CONCLUSION</b>Chinese patients with BFNC can be caused by KCNQ3 gene mutation.</p>

A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family / 中华儿科杂志

<p><b>OBJECTIVE</b>Benign familial infantile convulsions (BFIC) is a form of idiopathic epileptic syndrome characterized by onset of afebrile seizures between 3 and 12 months of life, Spontaneous remission after several weeks or months, and autosomal dominant mode of inheritance. Previous linkage analysis in western countries defined three susceptible loci on chromosomes 19q12.0-13.1, 16p12-q12, and 2q23-31, but studies performed in several Chinese families with BFIC got negative results of these previously reported loci. The authors investigated the relation of voltage-gated potassium channel gene KCNQ2 to BFIC in a Chinese family and thus to understand the molecular pathogenesis of BFIC.</p><p><b>METHODS</b>A four-generation Chinese BFIC family was investigated. All the affected 17 members had similar pattern of seizures starting from 2 to 6 months of age. In 15 of them, the seizures disappeared spontaneously within the first year of life. The phenotype extended beyond infancy only in two patients. Blood sample was collected from the 41 family members and 75 unassociated normal individuals. Polymerase chain reaction (PCR)-DNA direct sequencing was performed to screen all exons and their flanking introns of KCNQ2 gene for mutation analysis. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was used to ascertain the co-segregation of genotype and phenotype and to exclude polymorphism.</p><p><b>RESULTS</b>PCR amplification and subsequent direct sequencing of KCNQ2 from the DNA of proband revealed a heterozygous guanine to thymine nucleotide exchange (G812T) in exon 5, leading to the substitution of glycine by valine at amino acid position 271 (G271V) of the predicted protein. The same mutation with a comparable localization has been previously described for KCNQ3 in benign familial neonatal convulsions (BFNC). The glycine at this position (G271) is located in pore region of KCNQ2 protein and is evolutionarily highly conserved. The same SSCP variant as that of the proband was shown in the rest of the affected members of this family but not in the unaffected members enrolled in the study of this family and all the 75 unrelated normal individuals.</p><p><b>CONCLUSION</b>Previously reported mutations of KCNQ2 were mainly identified in BFNC family in which at least one individual had an onset of seizures during the first week of life, a hallmark of the BFNC disorder. The results of the present study suggest the possibility that KCNQ2 mutation exist in patients with BFIC diagnosis. G812T of KCNQ2 gene is a novel mutation found in BFIC and functional expression of KCNQ2 G812T is required for understanding the mechanism of BFIC and other idiopathic epilepsy.</p>

Pediatric epilepsy -- an Indian perspective.

Prevalence studies from India suggest that epilepsy prevalence is similar to developed nations. Neurocysticercosis (NCC) predominates as an etiology. A large treatment gap is still a public health problem. Benign epilepsies and West syndrome appear to be underrepresented in studies on classification of seizures/syndromes. Febrile seizures prevalence in India is similar to other countries and appear to be as benign. Risk factors of intractable epilepsy (IE) in Indian studies include early age of onset, neurodevelopmental abnormalities and certain seizure types. Perinatal injuries underlie many IE. Many IE are not truly intractable and respond to simple therapeutic measures. The ketogenic diet and surgery are other methods now being used in Indian centers. Neurocysticercosis and neonatal hypoglycemic brain injury, two widely prevalent etiologies are reviewed in detail.

Convulsiones neonatales / Neonatal convulsions

Las convulsiones neonatales son la evidencia más clara de una anormalidad en el funcionamiento cerebral, teniendo una incidencia variable entre 1 a 5 por 1000 RN vivos, asociándose más frecuentemente a una patología subyacente, a diferencia de las condiciones genéticas o idiopáticas que se observan en otras edades. La fisiopatología involucrada incluye una descarga hipersincrónica de un grupo finito de neuronas corticales, a través de diferentes mecanismos que conducen a una despolarización de las membranas neuronales. La clasificación utilizada se fundamenta en una observación cuidadosa de los fenómenos clínicos, siendo los hallazgos motores de tipo tónico, clónico, mioclónico y automatismos los de mayor relevancia, agregándose los datos aportados por el electroencefalograma (EEG) y video-EEG para complementar las apreciaciones clínicas. En el diagnóstico diferencial hay fenómenos motores como el mioclonus benigno del sueño, temblores, movimientos del despertar, reflejos fisiológicos, movimientos conductuales, movimientos extrapiramidales entre otros. Se debe además reconocer si estas forman parte de uno de los síndromes específicos que se inician en el período neonatal. El tratamiento adecuado incluye el de la etiología subyacente así como los fármacos anticonvulsivantes, dentro de los cuales el Fenobarbital, Lorazepam y Fenitoína aún tienen una participación relevante.

Prognostic value of non-reactive burst suppression EEG pattern associated to early neonatal seizures

Convulsões representam o evento neurológico mais freqüente no período neonatal e a etiologia das crises parece ser o aspecto clínico mais associado ao prognóstico a longo prazo. Entretanto, existem padrões anormais de EEG, que de forma consistente relacionam-se a prognóstico, entre eles o padrão de surto - supressão. OBJETIVO: Este estudo teve como objetivo correlacionar aspectos clínicos e eletroencefalográficos associados a prognóstico em longo prazo de recém - nascidos (RN) com padrão de surto - supressão não reativo no EEG. MÉTODO: Foram selecionados para este estudo RN com EEG neonatal realizado no Laboratório de Neurofisiologia Clínica do Hospital São Lucas da PUCRS e acompanhados na mesma instituição, com idade concepcional superior a 37 semanas (na data do EEG), cujos registros estivessem disponíveis para revisão. RESULTADOS: Foram incluídos 12 RN, 50% apresentaram crises convulsivas a partir do primeiro dia de vida. Em todos as convulsões eram refratárias ao tratamento medicamentoso. Em 50% a etiologia foi considerada criptogênica, 33% apresentavam erros inatos do metabolismo e 17% tinham história clínica e achados de neuroimagem sugestivos de encefalopatia hipóxico - isquêmica. O seguimento clínico demonstrou que 7/12 evoluíram para óbito, sendo 3 durante o primeiro ano de vida e um no período neonatal. Os sobreviventes apresentavam grave comprometimento do desenvolvimento neuropsicomotor e déficits neurológicos múltiplos, 92% seguiram com epilepsia refratária e 58% evoluíram para síndrome de West. CONCLUSÃO: O reconhecimento de padrão de surto - supressão não reativo no EEG neonatal pode ser relacionado a diversas doenças neurológicas e é associado a convulsões precoces e refratárias. Existe também definida associação entre este padrão e elevada morbi-mortalidade neonatal além do desenvolvimento de epilepsia pós-neonatal.

Epilepsias parciales benignas de la infancia: Correlación entre factores de riesgo con la evolución clínica y hallazgos electroencefalográficos y su aplicación en el establecimiento de criterios terapéuticos / Benign partial epilepsy of infancy: The Correlation between risk factors, clinical evolution and electroencephalographic findings and the application it has over the therapeutic criteria

Definición: Las epilepsias parciales benignas de la infancia (EPBI) representan el síndrome epiléptico mas común en niños en edad preescolar y escolar, correspondiendo al 15-24% de las epilepsias, diagnosticadas entre los 3 y 13 años. Remiten espontáneamente al llegar a la adolescencia. Las epilepsias rolándicas constituyen las EPBI de mayor incidencia, su principal característica es ocasionar crisis parciales, con anartria, hemiconvulsiones faciales, en algunos casos con hemigeneralización secundaria. El electroencefalograma interictal evidencia espigas focales centrotemporales. En el 40% de los casos existe historia familiar de convulsiones febriles, epilepsias clínicas, o descargas epilépticas en el electroencefalograma. Además, el 7-10% evidencian antecedentes personales de convulsiones febriles en su primera infancia. Algunos autores sugieren no medicar estos pacientes, sin embargo no existe un consenso al respecto.Objetivos:•Determinar si los antecedentes convulsivos familiares o personales representan una influencia en la evolución de la enfermedad y si su presencia es un criterio para iniciar medicación antiepiléptica. Proponer criterios terapéuticos de medicación y de observación.Metodología: Estudio monocéntrico, longitudinal, tipo cohorte histórico, realizado con pacientes de consulta externa del hospital Pediátrico Dr. Roberto Gilbert Elizalde, durante 3 meses (noviembre/2003 Enero/2004). Criterios de inclusión: convulsiones no febriles de inicio entre 3 y 13 años con neurodesarrollo normal, estudios de imágenes normales, examen neurológico normal y trazado electroencefalográfico compatible con EPBI. Se clasificó a los pacientes en dos subgrupos: con y sin antecedentes convulsivos familiares o personales, y se comparó las diferencias clínicas -en cuanto al intervalo interictal- y electroencefalográficas.

Definition: Benign partial epilepsy of infancy represents the most common epileptic syndrome in preschool and school children. It accounts for 15-24% of epilepsies diagnosed between the ages of 3 and 13 years. Rolandic epilepsy is one of BMEI with a high incidence its main characteristic is that it causes partial seizures, anartia, hemiseizures. The electroencephalogram shows centrotemporal spikes. In the 40% of the cases exist family history of febrile seizures, clinical epilepsy or epileptic discharges in the electroencephalogram. Also, 7-10% have a clinical history of febrile seizures in infancy. Some authors suggest to not medicate this patients. Objectives: XDetermine the family and history of seizures that can influence the evolution of the illness and if its presence is a criteria to start antiepileptic medication. Propose therapeutic criteria to medicate and of observation. Method: Monocentric, longitudinal, cohort study with patients that consulted Pediatric hospital of Dr. Roberto Gilbert Elizalde during the period of three months. (November 2003 V January 2004) Criteria to be included in this study: seizures without fever that began between the ages of 3 and 13 years of age with a normal neurodevelopment, normal image study, neurological exam and electroencephalogram that shows BMEI. Patients were classified in two subgroups: with or without family or clinical history of seizures and clinical differences were compared using.Results: Of the 57 patients 52 people were our study group out of which 67% were men and 33% were woman. The average of age was 9.26 years old +/- 2.99. The 63% of the patients had seizures while they were sleeping. Only 48% of the cases showed discharges are the electroencephalographic reading. Important clinical or electroencephalographic differences did not exist between the two groups. (with or with out clinical or family history).