ObjectiveAnalyze the clinical features of epilepsy induced by tuberous sclerosis complex (TSC) to improve diagnosis and treatment level of this disease, and improve the prognosis. MethodsThe clinical data of 54 patients with epilepsy induced by TSC from May, 2012 to May, 2015 were analyzed together with the physical data, clinical presentations, EEG, imaging findings, treatment, prognosis and follow-up. Summarizing the clinical features of epilepsy induced by TSC. ResultsPatients with different epilepsy onset age, whether or not combined spasm, differences in intelligence status were statistically significant (P < 0.05); Patients with different gender, skin lesions, types of seizures, differences in intelligence status were no statistical significance (P > 0.05); Patients with different gender, epilepsy onset age, differences in patients with spasm were statistically significant (P < 0.05); Patients with different family history, skin lesions, types of seizures, differences in patients with spasm were not statistically significant (P > 0.05). Patients with different intelligence status, difference of medication quantity was statistically significant (P < 0.05); Patients with different gender, onset age, family history, skin lesions, whether or not combined spasm, types of seizures, difference of medication quantity was not statistically significant (P > 0.05). ConclusionsEpilepsy is the most common neurological manifestations in TSC, mostly onset in early childhood. Seizure types are different from one to another. Patients can be combined with skin damage and mental retardation. Positive rate of EEG and head imaging examination are high, seizure control rate is low. Patients need long-term follow-up and timely adjustment of treatment. Intelligence status is related to epilepsy onset age, spasm. Patients with spasm are related to different gender, epilepsy onset age. Medication quantity is related to intelligence status.
ObjectiveThe study aimed to investigate the clinical characteristics of epilepsy patients with DEPDC5 mutation, and to improve the understanding of familial hereditary focal epilepsy.MethodsThree families with familial hereditary focal epilepsy were enrolled in this study from September 2014 to September 2017 at the Sanjiu Brain Hospital of Guangdong Province. Epilepsy-related gene in peripheral blood was detected by the second generation sequencing. The medical history, family history, magnetic resonance imaging, electroencephalo-groph, treatment programs and other data were collected and aralyzed.ResultsThere were 8 patients in the three families, seizures of whom originate mostly from the frontal or temporal lobe. Cognitive function and other system function was basically normal fron patients treated with antiepilepsy drugs.ConclusionsThe mutations of DEPDC5 gene are common in familial hereditary focal epilepsy, which leads to the main clinical symptom of complex partial seizure. Antiepilepsy drug therapy is effective to most patients. However, to those drug resistant patients, prognosis can improved by surgical treatment.