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[Ketogenic diet as antiepileptic therapy: a description of the clinical experience and the multidisciplinary approach at the metabolic-neurogenetic clinic at the Wolfson Medical Center].

UNLABELLED: The ketogenic diet, built on a menu that includes a high fat content and low protein and carbohydrate percentages, constitutes an alternative therapy for children with refractory epilepsy. This study describes our clinical experience with the diet, its efficacy, and the adverse effects associated with this treatment modality, which is mainly indicated in patients who do not respond to conventional antiepileptic drugs (AEDs). We place particular emphasis on our multidisciplinary approach, which includes physicians, nurses, social workers, and dieticians. A chart review was performed on all pediatric patients who received the diet in our clinic between 1998 and 2003. We recorded the patients' demographic data, the age at epilepsy onset, the age of the patient at the time the diet was started, the characteristics of the epilepsy, the seizure frequency, the AEDs prior to and during the diet, the patient and family compliance, and the adverse effects. RESULTS: Ten patients were treated. The youngest patient was 8 months old and the oldest was 19 years old at the onset of the diet. Eight children suffered from a well-defined epileptic syndrome. All children had frequent seizures and received between 2 and 9 AEDs prior to the diet. The duration of the diet ranged between 6 weeks and two and a half years. Seven patients experienced over 50% seizure reduction while on the diet. However, total seizure control was not attained in any patient. Adverse effects were minimal. All the patients complied with this rigid diet in a good or excellent manner. Furthermore, we also observed an improvement in the degree of alertness, learning skills, and developmental milestones in most of the children. The diet failed to provide satisfactory seizure control or improvement in the well-being of 3 patients. In conclusion, the ketogenic diet is an effective therapeutic alternative for children with refractory epilepsy, irrespective of the patient's age, gender or disease duration. We attribute our therapeutic success with the diet to the multidisciplinary approach carried out in our clinic.

Adolescent↗

[Stem cells in neurogenetics].

Genetically controlled proliferation and differentiation of stem nerve cells have been demonstrated to be among the repair mechanisms of the nervous system. Another such process is differentiation of neuroblasts from the cambial reserve.

Cell Differentiation↗

[Molecular neurogenetics of sensory behaviors in the hematode C. elgans].

The molecular mechanisms of neural plasticity, learning and memory are still poorly understood. The nematode Caenorhabditis elegans is capable of responding to a variety of environmental changes through its nervous system, consisting of only 302 neurons. C. elegans is an ideal model organism to elucidate neural plasticity, learning and memory at molecular, cellular and neuronal network levels. Thermotaxis behavior is particularly amenable to dissect learning and memory at all these levels. After cultivation at a certain temperature with food, C. elegans migrates to the cultivation temperature on a temperature gradient. By contrast, cultivation in food-deprived condition induces cultivation temperature avoidance behavior on a temperature gradient. We have been conducting forward as well as reverse genetic approaches to identify molecules, neurons and neuronal networks that are responsible for aspects of learning and memory in thermotaxis behavior.

Animals↗

The neurogenetics of lissencephaly.

A comprehensive approach to diagnosis of patients with lissencephaly using clinical, CT and MRI scan, and sometimes other laboratory data will allow a specific diagnosis to be made in a large majority of patients. The most common diagnoses in order of decreasing frequency will probably prove to be WWS, MDS, and ILS. The remainder constitute a heterogeneous group. Both diagnosis and counseling have been modified by several recent and important advances. Diagnostic criteria for WWS have been revised. Several molecular probes have been located within the MDS critical region in chromosome band 17p13.3. Prenatal diagnosis should prove to be reliable in both WWS and MDS.

Abnormalities, Multiple↗