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Título

EPILEPTIC AND DEVELOPMENTAL ENCEPHALOPATHY 14 ASSOCIATED WITH KNCT1 GENE MUTATION: A CASE REPORT

Apresentação do caso

CASE PRESENTATION: Male patient, with no history of comorbidities or consanguinity. Normal neurodevelopment up to two months, when started with daily focal epileptic seizures, with bilateral tonic-clonic progression. EEG with reentrant epileptic activity with onset of rhythmic theta activity located in the left posterior quadrant and then in the right central parietal region. Investigation by neuroimage without alterations. Genetic exam with heterozygous mutation of the KNCT1 Gene, which encodes a sodium-activated potassium channel and is expressed in the central nervous system. During the period, he used multiple drugs in optimized doses without complete improvement of the crises.

Discussão

DISCUSSION: Epileptic and Developmental Encephalopathy 14 associated with mutation of the KNCT1 Gene is a serious disease characterized by refractory focal seizures in children younger than 6 months and severe neurodevelopmental impairment. The mutation alters the central nervous system's sodium-activated potassium channels, which modulate the hyperpolarization of neurons after repetitive firing of action potentials. These channels are also found in the heart muscle contributing to the development of arrhythmias. It is a very rare disease, with approximately 200 cases described. The EEG of those affected shows ictal discharges that arise randomly from both hemispheres and migrate from one region to another. The diagnosis is made by identifying a heterozygous pathogenic variant in KCNT1. There is no specific treatment for this pathology and traditional drugs are not effective. Some authors approach treatment with Quinidine, still with inconsistent data regarding clinical efficacy, which may vary from complete to no response. Few can benefit from partial seizure reduction at the expense of cardiotoxic effects. Another option is the ketogenic diet, a limiting strategy for our patient due to being an infant.

Comentários finais

FINAL COMMENTS: Epileptic and developmental encephalopathy 14 is a rare genetic disease, with refractory epilepsy and severe neurodevelopmental impairment. Due to the small number of children affected by this disease, diagnosis and treatment are a challenge for the team.

KEYWORDS: KNCT1 gene, Encephalopathy, Neuropsychomotor developmental delay, Epilepsy

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