DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family.

Familial focal epilepsy with variable foci is a relatively rare autosomal disease with an unclear incidence, which is characterized by focal seizures arising from different cortical regions in different family members. We describe three members of a two-generation Argentine family with familial focal epilepsy with variable foci syndrome and a DEPDC5 gene mutation. The mean onset age was nine years old. The father experienced episodes with occipital semiology and both siblings exhibited frontal lobe seizures. Their neurological examination and neuroimaging studies were normal. All three patients are currently seizure-free, in spite of initially experiencing frequent seizures. Complete exome sequencing revealed a new DEPDC5 gene mutation (NM_001242896: c.4718T>C; p.L1573P). This study of a family with clinical characteristics that met all the criteria for familial focal epilepsy with variable foci demonstrates the usefulness of exome sequencing as a diagnostic tool. [Published with video sequence on www.epilepticdisorders.com].

Epilepsy surgery in children and adolescents: Report on 43 cases. / Cirugía de la epilepsia en niños y adolescentes: experiencia de 43 casos.

Epilepsy surgery in children with refractory epilepsy is one of the most effective methods to control seizures. The proper selection and assessment of surgery candidates is critical for surgical treatment to be adequately effective and safe. The purpose of this article is to describe our experience with 43 consecutive pediatric patients that underwent epilepsy surgery for refractory epilepsy between September 2005 and May 2014. Effectiveness, safety, and prognostic factors were analyzed. The median age was 12 years old at the time of surgery and 4.5 years old at epilepsy onset, with a latency period of up to 6 years until surgery. Since the surgery, the 43 patients have been in follow-up for a median of 5.4 years (±2.3 years). Resective surgery was performed in 32 patients and hemispherectomy, in 11 patients. To date, 62.8% of patients remain seizure-free. Abetterprognosis was observed in patients who underwent surgery with a duration of epilepsy of less than two years and in patients in whom a complete resection of the epileptogenic zone was achieved.

La cirugía de la epilepsia en niños con epilepsia refractaria es uno de los métodos más efectivos para obtener el control de crisis epilépticas. La apropiada selección y evaluación de los candidatos esfundamentalpara alcanzar una adecuada efectividad y seguridad del tratamiento quirúrgico. El objetivo es presentar nuestra experiencia con 43 pacientes pediátricos consecutivos sometidos a tratamiento quirúrgico de su epilepsia refractaria entre septiembre de 2005 y mayo de 2014. Se analizó la efectividad, la seguridad y los factores pronósticos. La mediana de edad de la cirugía fue de 12 años y la mediana de edad del inicio de la epilepsia fue 4,5 años, con una latencia hasta la cirugía de 6 años. Los 43 pacientes se encuentran en seguimiento con una mediana de 5,4 años (±2,3) desde la cirugía. Los procedimientos realizados fueron, en 32 pacientes, cirugías resectivas y, en 11, desconexiones hemisféricas. Un 62,8% de los pacientes permanecen libres de crisis. Los pacientes que se operaron con una duración de la epilepsia menor de 2 años y en los que se pudo realizar una resección completa del área epileptógena presentaron un mejor pronóstico.

Surgical treatment of focal symptomatic refractory status epilepticus with and without invasive EEG.

PURPOSE: Neurosurgery appears to be a reasonable alternative in carefully selected patients with refractory status epilepticus (RSE) and super-refractory status epilepticus (SRSE). We discuss the optimal timing of the surgery and the use of previous stereoelectroencephalography (SEEG) invasive evaluation. METHODS: We identified 3 patients (two pediatric and one adult) who underwent epilepsy surgery because of RSE or SRSE from our epilepsy surgery database, one of them with previous SEEG. RESULTS: Status epilepticus resolved acutely in all of them with no mortality and no substantial morbidity. At follow-up (median: 2 years), 1 patient was seizure-free, and 2 had significant improvement. CONCLUSION: Surgery should be considered in all cases of RSE and SRSE early in the course of the evolution of the disease.

Epilepsia partialis continua associated with levamisole.

Epilepsia partialis continua is defined as a spontaneous regular or irregular clonic muscular twitching affecting a limited part of the body, occurring for a minimum of 1 hour and recurring at intervals of less than 10 seconds. Levamisole is used as an immunomodulating medication in patients with recurrent aphthous ulcers. Evidence suggests that it can induce multifocal inflammatory leukoencephalopathy. We describe the clinical neuroimaging and ictal electroencephalographic findings in an adolescent with epilepsia partialis continua caused by the administration of levamisole with cortical and subcortical lesions. To our knowledge, this is the first report that describes the association of epilepsia partialis continua cortical lesions detected by magnetic resonance imaging and levamisole that were not previously described.

Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES).

PURPOSE: Fever induced refractory epileptic encephalopathy in school age children (FIRES) is a devastating condition initiated by prolonged perisylvian refractory status epilepticus (SE) triggered by fever of unknown cause. SE may last more than 1 month, and this condition may evolve into pharmacoresistant epilepsy associated with severe cognitive impairment. We aimed to report the effect of ketogenic diet (KD) in this condition. METHODS: Over the last 12 years we collected data of nine patients with FIRES who received a 4:1 ratio of fat to combined protein and carbohydrate KD. They presented with SE refractory to conventional antiepileptic treatment. RESULTS: In seven patients, KD was efficacious within 2-4 days (mean 2 days) following the onset of ketonuria and 4-6 days (mean 4.8 days) following the onset of the diet. In one responder, early disruption of the diet was followed by relapse of intractable SE, and the patient died. Epilepsy affected the other six responders within a few months. DISCUSSION: KD may be an alternative therapy for refractory SE in FIRES and might be proposed in other types of refractory SE in childhood.