ICNC Abstracts, ICNC 2018

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Clinical features and efficiency of ketogenic diet of 106 Dravet syndrome patients
JING PENG

Last modified: 2018-09-09

Abstract


To summarize the clinical characteristics of Dravet Syndrome(DS) patients and their response to antiepileptic drugs and KD. To assess the neuropsychological development of DS patients, and analyze relevant factors that may affect the neuropsychological development outcome and the efficacy of KD.

1. heat-sensitive convulsions occurring within 1 year of age, showing multiple types of seizures and status epilepticus, normal early EEG, head MRI and neurological examinations, poor response to antiepileptic medications and prognosis are consistent with previous reports.

2. SCN1A is the main pathogenic gene, other pathogenic genes including PCDH19, CHD2, HCN1, GABRG2, SCN2A and SCN9A.

3.80% of patients with DS were refractory epilepsy. TPM had the best curative effect when it was added, followed by valproic acid, clobazam, and levetiracetam.

4. Neuropsychological development impairment worsened with aging.

5. The age of emergence of afebrile convulsions, whether or not admitted to the PICU, occurrence of SE, EEG background, interictal epileptic spike discharge affect the neuropsychological development of DS patients. The age of emergence of afebrile convulsions≤12 months is independent risk factor for moderate-severe neuropsychological development outcome .

6.The effectiveness of ketogenic diets for DS patients with epilepsy decreased over time, with a complete response rate of 11.5% within six months. However, KD is very effect for abolishing SE. This study did not find any significant factors affect the efficacy of KD.


Keywords


Dravet syndrome;SCN1A;KD

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