Clinical and PRRT2 gene variants analysis of three families with benign familial infantile epilepsy / 中华神经科杂志

Objective:To investigate the clinical and gene variant characteristics of benign familial infantile epilepsy in generations of three families.Methods:The clinical data of the three benign familial infantile epilepsy patients with PRRT2 gene variant who were diagnosed and their family members were collected from Children′s Hospital Affiliated to Zhengzhou University between 2018 and 2019. All coding exons from the patients and their parents were screened by targeted next-generation sequencing, and detected variants were verified by Sanger sequencing.Results:In all the patients, a cluster of seizures was observed before one year old,but interictal clinical conditions were normal. The electroencephalograms were all normal in interictal stage. The father of proband 1 presented with convulsion onset at the age of eight months and showed remission before one year old. The grandpa, mother and uncle of proband 2 also presented with convulsion onset in their babyhood of life and showed remission before one year old. The mother of proband 3 presented with convulsion onset in their babyhood of life and showed remission before three years old. Proband 1 carried heterozygous c.937G>C variant in the PRRT2 gene which is inherited from his father. Proband 2 carried c.1075_c.1076insC variant inherited from his mother. A deletion of PRRT2 gene exon 2 was detected in both of proband 3 and her mother. The three variants had not been reported in the Human Gene Mutation Database.Conclusions:Benign familial infantile epilepsy is a kind of inherited epilepsy characterized by early onset of seizure in babyhood with better prognosis, a cluster of focal seizures with or without secondary generalization, and cessation of seizure mostly before two or three years of age. The variants c.937G>C, c.1075_c.1076insC and the deletion of exon 2 in the PRRT2 gene have enriched the gene variant spectrum of benign familial infantile epilepsy.

Clinical analysis of four cases of KCNQ2 gene-related neonatal-infantile epilepsy / 中华神经科杂志

Objective To explore the clinical characteristics of KCNQ2 gene mutation-related neonatal-infantile epilepsy.Methods A retrospective analysis of four cases of neonatal-infantile epilepsy with mutation identified by KCNQ2 gene detection was conducted in the Department of Pediatrics,Affiliated Hospital of Xuzhou Medical University from March to October 2018.The clinical data were collected.Results All the four cases were full-term infants.The onset time was six days,two days,two days and seven months and 12 days after birth,respectively.The types of seizures and electroencephalogram manifestations of these cases were diverse,and the KCNQ2 gene mutation sites were c.2315delC/p.Pro772Args,c.16789C＞T/p.Arg560Trp,c.1696G＞T/p.Asp566Tyr,c.241C＞T/p.Leu81Phe,respectively.The clinical diagnosis was benign familial neonatal epilepsy,infantile epilepsy with migratory focal seizures,infantile spasm and benign familial infantile epilepsy,which were alleviated after antiepileptic drug treatment.The motor and intellectual development of two cases was normal,and two cases showed obvious developmental delay.Conclusions The onset time,mutation site and clinical phenotype of KCNQ2 gene mutation-related epilepsy are various.Gene detection can assist in diagnosis and provide reference for treatment.

The First Korean Case of KCNQ2 Mutation in a Family with Benign Familial Neonatal Convulsions

Neonatal seizures represent a heterogeneous group of disorders with vastly different etiologies and outcomes. Benign familial neonatal convulsions (BFNC) are a distinctive epileptic syndrome of autosomal dominant inheritance with a favorable prognosis, characterized by the occurrence of unprovoked partial or generalized clonic seizures in the neonatal period or early infancy. Recently, mutations in two potassium channel genes, KCNQ2 and KCNQ3, have been described in this disorder. In this report, we describe a family with BFNC due to a KCNQ2 mutation, the first such family to be described in the Korean population. The diagnosis of BFNC can be made based on clinical suspicion and careful history taking with special emphasis on the familial nature of the disorder. KCNQ2 mutations may be associated with BFNC in a number of different races, as has been reported in other ethnic groups.

Value of video electroencephalogram in the identification of neonatal epileptic and non-epileptic seizures / 中华围产医学杂志

Objective To evaluate the clinical effectiveness of video electroencephalogram (VEEG) in neonatal seizure. Methods Seizures attacks of 64 newborns with gestational ages 28-44 weeks were monitored by VEEG. Results Incidence of abnormal VEEG was 32. 8%. Among 64 cases found in the VEEG, 13 cases had epileptic discharge in the ictal VEEGs. Three cases showed epileptic discharge in the interictal VEEGs with normal background rhythm. Two cases presented epileptic discharge in the interictal VEEGs with abnormal background rhythm. Three cases had abnormal background rhythm only. Discharge frequency during sleeping was more quick than that during awake-ness, mostly in the quiet sleep phase. Most frequently ictal epileptic discharges were a focal onset (16/ 18) , and 13 cases happened in the temple lobe. No epileptic discharge in the ictal and interictal VEEGs were tested in 46 cases attacked with seizures, which were diagnosed as non-epileptic seizures. Conclusions VEEG plays an important role in the diagnosis and differential diagnosis in epilepsy and non-epileptic seizure in newborns, and is valuable to perform early to improve prognosis.

Relationship between serum prolactin level and neonatal seizures / 中华围产医学杂志

Objective To investigate the relationship between serum prolactin(PRL) level and neonatal seizures and to evaluate the clinical significance of PRL as a neonatal seizures marker to diagnose neonatal seizures. Methods Thirty five newborn infants with acute encephalopathy were divided into two groups: the ictal group included infants with typical clinical symptom and/or electrographic seizures and the nonictal group are those without electrographic seizures or clinical behaviors. The control group included 17 newborns. Serum PRL levels were determinded by immulite assay system at 15～30 min postictally; 2 h postictally and 2～4 days after the end of seizures. Results In the ictal group, serum PRL levels were significantly higher at 15～30 min[(302.6?93.5) ?g/L] than that of 2 h [(128.1?71.4) ?g/L], nonictal[(101.2?31.4)?g/L and (89.9?36.2) ?g/L] and control group[(73.3?20.7) ?g/L and (68.6?29.5)?g/L], P