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Aims: Diagnosis of GLUT-1 deficiency in patients with periodic ataxia is often delayed. Classical ketogenic diet is recommended but difficult to comply to whereas the modified Atkins diet is far easier to manage for patients. There are no data regarding the benefit of a modified Atkins diet in patients with GLUT-1 deficiency past puberty. It is unknown whether improvement can be assessed with objective methods that are routinely used for example M-ABC or neuropsychological testing.

Alpers-Huttenlocher syndrome (AHS) is a very rare autosomal recessive disorder. AHS is caused by homozygous or compound heterozygous mutations in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG, chromosome 15q25). Most patients become symptomatic before the age of 2 years. We report 3 patients who were treated in our clinic between 2007 and 2010. All patients suffered from myoclonic seizures and had at least one refractory convulsive status which led to the diagnosis. All of them had varying degrees of developmental delay, 2 of them additionally ataxia. Gastrointestinal motility problems were severe in all patients despite only mildly deranged liver function. While in most aspects our patients present with typical AHS features, they also share intestinal problems, a feature that has not been recognized as typical for AHS before. AHS is a multisystem disorder that does affect all cell systems. Liver and brain are organs with the highest energy demand and are therefore usually affected early in the disease course of AHS. However, constipation and bowel obstruction should be regarded as typical complications in AHS and patients should be monitored and treated to improve quality of life. Regarding treatment options for epilepsy in AHS ketogenic diet as well as lacosamide might be considered.

Here we describe two brothers with genetically-proven Dopa-responsive Dystonia due to homozygous GCH-1 gene mutations.

Introduction: Alpers-Syndrome (psychomotor retardation, intractable epilepsy, and liver failure) is a very rare disorder with an incidence of 1:100.000–1:250.000. Alpers-Syndrome is caused by mutation in the nuclear gene encoding mitochondrial DNA polymerase γ (POLG-1, Chromosome 15q25). In most cases patients become symptomatic before age 2 years. We report three patients, which were treated between 2007–2010.

OBJECTIVE:The objective of this article is to present the development, contents and efficacy of the FLIP&FLAP programme for children and adolescents with epilepsy, and their parents. INTERVENTION:The programme is mainly directed at age-appropriately developed children and adolescents between 6 and 16 who take antiepileptic drugs. It is conducted as a 2.5-day group training programme; children and parents are grouped separately. The main focuses are: EVALUATION STUDY: We performed a multi-centre non-randomised two-group pre-/post-trial using a waiting-list control group design. 10 German epilepsy centres participated. The intervention group, IG (21 children 8-11 years, 44 adolescents 12-16 years, 72 parents) completed standardised questionnaires immediately before the FLIP&FLAP course and 6 months later; the waiting control group, WCG (31 children, 39 adolescents, 72 parents) 6 months before and immediately before the course. Compared to the WCG, the children and parents of the IG showed significantly improved knowledge of epilepsy, with medium to large effect sizes (univariate analysis of variance with repeated measurements, d=0.6-1.4). Parents of the IG reported improved self-management skills (d=0.7) and communication skills (d=0.8) of their child and fewer epilepsy-related worries (d=0.5). Children and adolescents of the IG reported improved HRQOL in the Social Exclusion dimension (d=0.3). CONCLUSION:FLIP&FLAP is an effective child- and family-centred programme. It is currently being established in Northern Germany to test its usefulness in routine care.

Ketogenic diet is the treatment of choice in patients with pyruvate dehydrogenase deficiency. An early initiation of the diet is associated with a better outcome.

Transcranial direct current stimulation (tDCS) has been developed as a safe and effective method to modulate cortical activity by weak currents of 1 mA without side effects. The mechanism of action is a brief shift of the resting membrane potential influencing the excitability of the central nervous system. Depending on the time of this painless stimulation, after-effects can be measured up to 10–20 minutes after the stimulation.

Objective: To correlate immediate tDCS effects in epilepsy patients with the VNS-therapy outcome. The hypothesis of similar effects of VNS and tDCS on seizure reduction in epilepsy patients for prediction of VNS efficacy will be proved.