ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical phenotypes and hereditary patterns of the generalized epilepsy with febrile seizures plus (GEFS+).</p><p><b>METHODS</b>Detailed family trees were constructed by inquire and physical examinations for the probands of the 15 pedigrees of GEFS+. Some patients received electroencephalography, cranial CT or MRI examination. The seizures and epilepsy syndromes were classified according to the 2001 Seizure International Classification. The clinical data of GEFS+ were reviewed.</p><p><b>RESULTS</b>The 15 families consisted of 196 individuals. Seventy-five individuals were confirmed with epilepsy. The phenotypes of 64 out of the 75 patients with epilepsy conformed to GEFS+. The 64 patients included 38 males and 26 females (1 deceased) and there was no gender difference in the morbility of GEFS+. The age at onset was all in childhood. GEFS+ had a diversity of phenotypes. Febrile seizures (FS) were confirmed in 44 patients, FS and myoclonic seizure in 1, febrile seizures plus (FS+) in 13, FS+ and absence seizure in 2, FS+ and myoclonic seizure in 1, and FS+ and focal seizure in 3.</p><p><b>CONCLUSIONS</b>The heterogeneity of phenotypes and genetics may be the hallmarks of GEFS+. FS and FS+ are common phenotypes while FS+ and absence seizure, FS+ and myoclonic seizure, and FS+ and focal seizure are rare. If one of the parents is affected in a GEFS+ family, the susceptibility of their children to GEFS+ is the same no matter what gender of their children is. It is speculated that the hereditary pattern of GEFS+ conforms to autosomal dominant inheritance.</p>
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Epilepsy, Generalized , Genetics , Seizures, Febrile , GeneticsABSTRACT
Objective To investigate the clinical significance of generalized epilepsy with febrile seizures plus(GEFS+ ). Methods The data of one family with GEFS+ were retrospectively analyzed by studying clinical manifestations, physical examinations, electroencephalogram(EEG), 24 hours dynamic EEG monitoring, et al. Some of the patients were examined by CT. Results Ⅳ 12, her chief complaints when admitted to hospital were frequent spasm for 3 days. She began to appear febrile seizures (FS) from 8 months after birth, and frequent generalized tonic - clonic FS appeared during that time. There were 36 people in 5 generations of the family including 14 patients (8 males and 6 females) ,aged from 4 years and 5 months to 82 years. FS presented in 8 cases (Ⅱ 2, Ⅲ1, Ⅲ4, Ⅲ6, Ⅳ1, Ⅳ11, Ⅳ17, Ⅴ2),febrile seizures plus(FS +) in 4 cases ( Ⅳ2, Ⅳ12, Ⅳ13, Ⅳ14), ES + and absence seizures in 1 case ( Ⅴ1 ), uncertain type in 1 case (Ⅰ2). The results of EEG indicated that 12 cases were normal and 4 cases with FS+ and 1 case with absence seizures had epileptic discharges. Apart form Ⅳ13, Ⅳ14 who were treated with magnesium valproate, the dosage for the other patients decreased, or medicine terminated or without medicine, and all the patients had no recurrence of seizures. The intelligence, movement development and neurological examinations of the family were all normal. Head CT scan of 3 cases were normal. Conclusions GEFS+ is autosomal dominant inheritance disease with conspicuous genetic heterogeneity and phenotypic heterogeneity. The apprehension of GEFS+ plays an important role in diagnosis and differential diagnosis of epilepsy in childhood.
ABSTRACT
Objective To find the relationship between mutation of gamma 2 subunit of the gamma-aminobatyric acid type A receptor(GABRG2) and generalized epilepsy with febrile seizure plus(GEFS+).Methods Probands of 10 families with GEFS+ were selected,the GABRG2 gene were sequenced.Results We found a single nucleotide polymorphism site,and did not find the reported mutations.Conclusion GABRG2 mutation is not common in Hans of northern China.
ABSTRACT
Objective To summarize the clinical and electroencephalography(EEG) characteristics of benign epilepsy with centro-temporal spikes (BECTS) in children.Methods The clinical manifestations,EEG findings,response to drug treatment and prognosis of 35 children with BECTS from Jul.2003 to Dec.2008 in the First Affiliated Hospital of Zhengzhou University were analyzed retrospectively.Results In the 35 cases,the age of onset was 2.5 to 14.0 years old,and the peak age of onset was 6-10 years old(62.9%).Twenty-two cases mainly presented partial seizures:hemifacial convulsions,sialorrhea,sounds,limb tonic-clonic seizures,and secondary generalized seizures.Thirteen cases were only describled generalized tonic-clonic seizures.Seizures were closely related to sleep and almost occurred shortly after falling asleep or before waking up.There were 26 cases who displayed convulsion during sleeping,including noon break.The EEG features showed numerous or single spikes on one side or both sides in the central and temporal areas under the background of normal activity in interictal period.The release frequency of abnormal wave was significantly increased after falling asleep,so the EEG monitoring during sleep could improve the positive rate of BECTS.Monotherapy with low-dose anti-epileptic drug could obtain good efficacy.Twenty-five cases stopped seizures within 3 months after therapy.Thirty-three cases hadn't get seizure since drug therapy at the age of 16 years old.So far,12 cases had been stopped medicine.Conclusions BECTS mostly begins at school-aged children,which displays partial seizures or secondary generalized seizures.The seizures are closely related to sleep.EEG monitoring during sleep which shows numerous or single spikes on the centrotemporal area has crucial diagnostic value to BECTS.There is a positive response to monotherapy with low-dose anti-epileptic drug and generally the prognosis is good.
ABSTRACT
Objective To analyse the follow-up of one family with generalized epilepsies with febrile seizures plus (GEFS +).Methods We conducted a family with GEFS + by sexs,ages, seizure manifestation,electroencephalogram (EEG),and so on.Results There were 36 people in 5 generations of the family in all,including 14 patients(8 cases were male and 16 cases were female).Their ages were from 4 years and 5 months to 8 years.There were 8 cases febrile seizures (FS),4 cases with FS + and 1 case with FS + and absence seizures in 13 patients except 1 case without adequate knowledge.The Results of ECG indicted that 12 cases were normaland 4 cases with FS + and 1 case with absence seizures had epileptic discharges.Conclusions GEFS + is a common kind of inherited epilepsic syndrome and occur in childhood.So it is greatly important for epileptic children to know GEFS +