3 posts found

STXBP1 protein as a therapeutic target for Epileptic Encephalopathy

The epileptic encephalopathies (EEs) are characterized by frequent seizures and cognitive and behavioral impairment. The presence of the mental handicap is a signal that the EEs origin during the neuronal development, so that, even if the seizure can be controlled by using available anti-epileptic drugs, the cognitive impairment cannot be stopped with the current treatments. […]

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Mitochondrial disorders: impaired neurotransmission and seizures

Seizure are frequent symptoms of inborn errors of metabolism. In particular, 26–60% of all mitochondrial disorders occur with epilepsy, and 169 genetic mutations affected mitochondrial function have been associated to seizures. Dr. Zsurka and Dr. S Kunz from Bonn University, Germany, proposed an accurate review, recently published in the journal Lancet Neurology, of the relationship […]

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Epilepsia y metabolismo sináptico

Los conocimientos que la neurociencia básica y el neurometabolismo están aportando a la epilepsia pediátrica son rápidamente crecientes. Estos avances son especialmente notables en el área específica de los mecanismos de comunicación sináptica. Existe, no obstante, una desconexión entre estos avances y una visión que los integre de manera global y en la práctica clínico-terapéutica. […]

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