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Heterozygous mutations of PRRT2, which encodes proline-rich transmembrane protein 2, are associated with heterogeneous phenotypes including benign familial infantile seizures (BFIS), or familial paroxysmal kinesigenic dystonia (PKD). We report a consanguineous Italian family with BFIS/PKD phenotype that contained 14 living members with 6 affected individuals (four men, ranging in age from 6-44 years). We identified the reported c.649dupC (p.Arg217ProfsX8) mutation of PRRT2 gene that cosegregated with the disease and was not observed in 100 controls of matched ancestry. Four patients with BFIS phenotype were heterozygous for this mutation, including the consanguineous parents of the two affected brothers with more severe phenotypes of BFIS/PKD--mental retardation, episodic ataxia, and absences--who were the only individuals to carry a homozygous c.649dupC mutation. This family provides strong evidence that homozygous PRRT2 mutations give rise to more severe clinical disease of mental retardation, episodic ataxia, and absences, and, thus, enlarges the clinical spectrum related to PRRT2 mutations. Moreover, it suggests an additive effect of double dose of the genetic mutation and underscores the complexity of the phenotypic consequences of mutations in this gene.

The purpose of the study was to examine the impact of idiopathic epilepsy on mothers and fathers in terms of strain, burden of care, worries and perception of vulnerability. Data were collected and analyzed shortly after the diagnosis (T0) and 12 months later (T1). The results indicated that at T0 parents of children with epilepsy showed higher levels of worries and perception of vulnerability than controls; mothers sustained a greater burden of care and exhibited higher levels of strain than fathers. At T1, strain and perception of vulnerability decreased both for mothers and fathers, while burden of care and worries remained stable. At T0 and T1, strain was associated with parents' perception of vulnerability and anxiety for their children's future.

Eyelid myoclonia with absences (EMA), or Jeavons syndrome, is a generalized epileptic condition clinically characterized by eyelid myoclonia (EM) with or without absences, eye closure-induced electroencephalography (EEG) paroxysms, and photosensitivity; in addition, rare tonic-clonic seizures may also occur. Although first described in 1977 and widely reported by several authors within the last few years, EMA has not been yet recognized as a definite epileptic syndrome. However, when strict criteria are applied to the diagnosis, EMA appears to be a distinctive condition that could be considered a myoclonic epileptic syndrome, with myoclonia limited to the eyelids, rather than an epileptic syndrome with absences.

Febrile seizures are the most common seizure disorder in childhood, affecting 2-5% of children. Simple febrile seizure is defined as a short (

Summary: Purpose: To measure anti-cardiolipin (aCL), anti-β2 glycoprotein I (anti-β2GPI), and anti-prothrombin (aPT) antibodies in young patients with epilepsy, and to correlate their presence with demographic data, clinical diagnoses, laboratory and neuroradiologic findings, and antiepileptic drugs (AEDs). Methods: Sera from one hundred forty-two consecutive patients with epilepsy with a median age of 10 years were tested for aCL and anti-β2GPI autoantibodies by solid-phase assays. aPT antibodies also were assayed in sera from 90 patients. Positive results were confirmed after a minimum of 6 weeks. Antinuclear antibodies (ANAs) and antibodies against extractable nuclear antigens (ENAs) also were tested. Results: An overall positivity of 41 (28.8%) of 142 sera was found. Fifteen patients were positive for aCL, 25 for anti-β2GPI, and 18 for aPT antibodies. Several patients (12%) displayed more than one specificity in their serum. Only one of these patients had a concurrent positivity for ANAs and ENAs. A predominance of younger patients was found in the antibody-positive group. All types of epilepsy were represented in the positive group. No relation between antibody positivity and AEDs was found. Diffuse ischemic lesions at computed tomography (CT)/magnetic resonance imaging (MRI) scans were present in higher percentages in patients who were antibody positive. No positive patient had a history of previous thrombosis or other features related to systemic lupus erythematosus (SLE), and no patient was born of a mother with SLE. Conclusions: Our study suggests a relation between epilepsy and aPL in young patients. A pathogenetic role for these autoantibodies cannot be excluded, and their determination might prove useful even from a therapeutic point of view.

Summary: Fifteen children (7 boys and 8 girls) with generalized tonic-clonic seizures (GTCS) and partial seizures with elementary or complex symptomatology, treated with carbamazepine (CBZ) alone (n = 7) or in combination with either phenobarbital (PB, n = 6) or clobazam (CLB, n = 2) given for at least 3 months at stable individualized doses and regimens, entered an open, withinpatient, change-over study of consecutive periods, each lasting 2 weeks. During period 1, conventional CBZ was given; during period 2, a chewable CBZ formulation was substituted for conventional CBZ and given at the same total daily dosage with the same schedule as in period 1. Blood samples for measuring plasma concentration of both total CBZ and CBZ-10, 11 epoxide (CBZ-E) were taken on the last day of each period. No significant difference between the two periods was noted in the mean ±SD of Cmax, Css mean, and area under the curve (AUC) of total CBZ and CBZ-E. The two different CBZ formulations, administered at the same total daily dosage, can be considered bioequivalent. ReSUMe Quinze enfants (7M, 8F) presentant des crises generalisees tonico-cloniques et des crises partielles a symptomatologie ele-mentaire ou complexe, traites par carbamazepine, CBZ seule (n = 7) ou en combinaison avec phenobarbital (n = 6) ou clobazam (n = 2) pendant au moins 3 mois suivant une prescription stable, ont ete inclus dans une etude ouverte de periodes successives durant 2 semaines, les comparaisons portant entre les differents traitements chez le meme patient. Pendant la p6riode I, ils ont rec nune CBZ conventionnelle, pendant la periode 2, une formulation de CBZ en gomme a mâcher a ete substituteee a la CBZ conventionnelle, en etant donnee a une dose totale par jour identique et avec la meme rtpartition que pendant la petriode 1. La concentration plasmatique de la CBZ totale et du 10–11 epoxide a ete mesuree le dernier jour de chaque periode. Il n'y a pas eu de differences significatives entre les deux periodes dans la moyenne ± DS du Cmax, dans la moyenne des CSS et dans l'aire sous la courbe pour le CBZ total et l'epoxide. Les deux formes galeniques differentes de CBZ, administrees a une dose quotidienne totale identique, peuvent etre considerees comme bioequivalentes. RESUMEN Se ha realizado un estudio abierto, entre pacientes, y cruzado en dos periodos consecutivos cada uno durando dos semanas en el que se han incluido 15 ninos (7M y 8F) que padecian ataques generalizados tonico-clonicos y ataques parciales con sintoma-tologia elemental o compleja tratados con carbamazepina (CBZ) (n = 7) o en combinacien con fenobarbital (n = 6) o clobazam (n = 12) administrados durante, al menos, 3 meses en dosis y regimenes individualizados estables. Durante el Periodo 1, se administro CBZ convencional, mientras que durante el Periodo 2, se administre una formulacien masticable de CBZ en vez de la CBZ convencional y alcanzando la misma dosis total diaria y con el mismo programa que en el periodo 1. Las extracciones de sangre para medir las concentraciones plasmaticas de la CBZ total y del 10,ll epoxido, se realizaron en el ultimo dia de cada periodo. se observaron diferencias significativas entre los 2 periodos en el promedio ± SD de Cmax, promedio Css y AUC de la CBZ total o de su expexido. Las dos formulaciones distintas de la CBZ administradas a la misma dosis total diaria pueden considerarse como bioequivalentes.