Recent advance in genetics of epilepsy of infancy with migrating focal seizure / 中华神经医学杂志

Epilepsy of infancy with migrating focal seizure (EIMFS) is a rare drug-resistant epilepsy syndrome with characteristic migrating EEG presentation. In recent years, with increased discovery of new pathogenic genes in this syndrome, our knowledge and understanding on pathophysiological mechanisms of this syndrome have been broadened. This article systematically summarizes the genes associated with EIMFS that have been reported at home and abroad to expand clinicians' understanding of the disease and provide references for identifying the disease.

Change in intestinal flora after treatment in children with focal epilepsy / 中国当代儿科杂志

OBJECTIVES@#To study the difference in intestinal flora between children with focal epilepsy and healthy children and the change in intestinal flora after treatment in children with epilepsy.@*METHODS@#A total of 10 children with newly diagnosed focal epilepsy were recruited as the case group and were all treated with oxcarbazepine alone. Their clinical data were recorded. Fecal specimens before treatment and after 3 months of treatment were collected. Fourteen aged-matched healthy children were recruited as the control group. Total bacterial DNA was extracted from the fecal specimens for 16S rDNA sequencing and bioinformatics analysis.@*RESULTS@#After 3 months of carbamazepine treatment, the seizure frequency was reduced by >50% in the case group. At the phylum level, the abundance of Actinobacteria in the case group before treatment was significantly higher than that in the control group (P<0.05), and it was reduced after treatment (P<0.05). At the genus level, the abundances of Escherichia/Shigella, Streptococcus, Collinsella, and Megamonas in the case group before treatment were significantly higher than those in the control group (P<0.05), and the abundances of these bacteria decreased significantly after treatment (P<0.05).@*CONCLUSIONS@#There is a significant difference in intestinal flora between children with focal epilepsy and healthy children. Oxcarbazepine can significantly improve the symptoms and intestinal flora in children with epilepsy.

Clinical characteristics of PCDH19-female limited epilepsy / 中华儿科杂志

Objective@#To analyze the clinical characteristics of patients with PCDH19-female limited epilepsy (PCDH19-FE).@*Methods@#The clinical data of 60 female epilepsy patients with PCDH19 gene heterozygous variations at the Department of Pediatrics, Peking University First Hospital from October 2007 to December 2018 were collected and analyzed retrospectively, their clinical manifestations, accessory examination and follow-up treatment were summarized.@*Results@#Data of a total of 60 cases of PCDH19-FE were collected. The seizure onset occurred between 4 and 42 months of age (median: 11 months of age). Focal seizures occurred in 47 patients (78%), generalized tonic-clonic seizures (GTCS) occurred in 30 patients (50%), and other rare types of seizures included atypical absence, myoclonic, clonic, tonic, and atonic seizures. Two or more seizures types existed in 24 patients (40%), and seven patients (12%) had attacks of status epilepticus. Sensitivity to fever was observed in 47 out of them (78%) and clustering of seizures as found in all patients. During the interictal phase, focal discharges were monitored in 22 cases (22/45, 49%), multifocal discharges in 12 cases (12/45, 27%), widely discharging in 2 cases (4%), and both focal and widely discharging in 9 cases (20%). Clinical seizures were detected in 30 patients during the electroencephalogram (EEG) recording, including focal seizures in 22 cases, GTCS seizures in 8 cases, tonic seizure in three cases, myoclonic seizure followed by GTCS in one case, and two types of seizures in four cases. Before seizure onset, 57 patients had normal development and three patients had delayed language development. After seizure onset, varied degrees of intelligence disability were present in 38 cases (63%), language delay in 36 cases (60%), and gait instability in 10 cases (17%). Autistic features occurred in 17 cases (28%); and other behavioral problems like learning difficulties, personality, or emotional disorders existed in 33 cases (55%). Age at last follow-up ranged from one year and 3 months to 22 years and 3 months of age, 17 patients (28%) were seizure-free for more than 2 years (5 to 22 years at the last follow-up). The efficiency of antiepileptic drugs were 65% (33/51) in sodium valproate, 63% (27/43) in levetiracetam and 59% (20/34) in topiramate.@*Conclusions@#The clinical features of PCDH19-FE are characterized by clustering of seizures, focal seizures in most cases, sensitivity to fever mostly, focal discharges principally in EEG, varied degrees of intellectual disability or movement disorder, combined with autism spectrum disorders in partial and high efficiency in sodium valproate or levetiracetam treatment.

Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation / 대한소아신경학회지

Epilepsy of infancy with migrating focal seizure (MFEI) is an early-onset epileptic encephalopathy characterized by randomly migrating focal seizures and psychomotor deterioration. It is associated with mutations in a variety of genes, with potassium sodium-activated channel subfamily T member 1 (KCNT1) being an example. Previously reported KCNT1 mutations in MFEI are gain-of-function mutations. Therefore, quinidine therapy targeted at reduction of pathologically increased KCNT1 channel-mediated potassium conductance has been proposed as a target treatment for MEFI with KCNT1 mutation. The authors report a case involving a patient with MFEI and a missense mutation in KCNT1 (c.7129G>A; p.Phe346Leu) treated with quinidine therapy. Seizure activity was poorly responsive to quinidine.

Crisis parciales como presentación atípica de aneurisma gigante / Partial seizures as atypical presentation giant aneurysm

Los aneurismas gigantes suelen manifestarse en forma de hemorragia subaracnoidea o cefalea. La presentación clínica de un aneurisma gigante intracraneal como epilepsia parcial es inusual, como lo indican los pocos casos recogidos en la literatura. Se presenta el caso de un aneurisma gigante intracraneal de arteria carótida interna derecha, que debuta con crisis focales del lóbulo temporal, manteniéndose sin otra manifestación a lo largo de años a pesar de las llamativas dimensiones.

Giant intracranial aneurysms are usually manifested as subarachnoid hemorrhage or headache. The clinical debut of a giant intracranial aneurysm as partial epilepsy is unusual and indicates the few cases reported in the literature. For giant aneurysm of an intracranial internal carotid artery occurs. Debuts with focal seizures of the temporal lobe, remaining without further demonstration over the years despite the striking dimensions.

Análise da associação entre a presença de lesão estrutural do encéfalo e ocorrência de crise epiléptica e epilepsia / Trajectory of a Sentinel Event Assistance: evaluation of a full diabetic user attention in SUS from Severe Diabetic Retinopathy

A pesquisa de lesão estrutural do cérebro em pacientes com crise epiléptica e epilepsia é fundamental no diagnóstico e tratamento da síndrome epiléptica. O objetivo do estudo foi determinar freqüência e associação entre características clínicas e presença de lesões estruturais do encéfalo detectadas no exame de ressonância magnética, com o status e as formas clínicas da epilepsia. Avaliou-se o perfil clínico dos pacientes e das lesões estruturais do encéfalo na imagem por ressonância magnética em 140 pacientes com epilepsia ou crise epiléptica, encaminhados para exame de ressonância magnética e catalogados por demanda espontânea, desde outubro de 2003 até janeiro de 2005. O estudo foi do tipo caso-controle com casos prevalentes. A idade variou de um a 59 anos (mediana de 15,0 anos), sendo 51,6 por cento do gênero masculino. A crise epiléptica foi focal em 55 por cento, a freqüência mensal de até 10 crises foi registrada em 77,6 por cento e o exame neurológico foi normal em 64,2 por cento dos pacientes. Epilepsia farmacoresistente foi identificada em 76,3 por cento e crise epiléptica única em 15,7 por cento. A imagem por ressonância magnética foi anormal em 72,8 por cento dos pacientes. O lobo temporal foi local para 50,5 por cento das alterações. As mais encontradas foram: anormalidades no hipocampo (41,1 por cento); malformações do desenvolvimento cortical (19.6 por cento); isquemia (5,8 por cento); tumor (6,8 por cento); cavernoma(2,9 por cento); facomatose (4,9 por cento); cicatriz (4,9 por cento); inflamatório (4,9 por cento); outras (8,8 por cento). A alteração estrutural na imagem de ressonância magnética foi mais presente entre os pacientes com epilepsia focal e farmacorresistente, sendo o lobo temporal a região com mais alterações. Os pacientes com tumor cerebral apresentaram mais CE focal e a atrofia do córtex cerebral foi alteração freqüente na IRM de pacientes com epilepsia farmacorresistente. Os pacientes com idade maior de 15 anos, número mensal maior de crises e epilepsia sintomática apresentaram maior risco para CE focal e aqueles com crise epiléptica única apresentaram mais CE generalizada. O risco para epilepsia farmacorresistente foi maior entre os pacientes com anormalidades no exame de ressonância magnética, antecedente pessoal e exame neurológico anormais.

The research of structural lesion of the brain in patients with epilepsy is fundamental to diagnosis and treatment of the epileptic syndrome. The authors evaluated the patients clinical profile and structural lesions of the brain in magnetic resonance image of 140 patients with epilepsy and classified by spontaneous demand, since October of 2003 to January of 2005. The study was a case-control with prevalent cases and aged between 1 and 59 years (medium 15,0 years), being 51,6% of masculine gender. Epileptic seizure was focal in 55%, monthly frequency of 10 or less was registered in 77,6% and neurological exam was normal in 64,2% of patients. Refractory Epilepsy was identified in 76,3% and single seizure in 15,7%. Magnetic resonance image was abnormal in 72,8% of patients. Temporal lobe was the local for 50,5% of the alterations, presented as: hypocampal abnormalities (41,1%); malformations of the cortical development (19.6%); stroke (5,8%); tumor (6,8%); cavernoma (2,9%); facomatoses (4,9%); scar (4,9%); inflammatory (4,9%); others (8,8%). The structural alteration in the image of magnetic resonance was more present among patients with focal and refractory epilepsy, being the temporal lobe the area with more alterations. Patiensts with focal seizures presented more cerebral tumor and those with refractory epilepsy presented cerebral cortex atrophy in magnetic resonance image. Patients more than 15 years old had high frequency of seizures and with syntomatic epilepsy,also presented more risk for focal seizures. Generalized seizure was presented mostin those with a single resonance image, abnormal personal antecedent and neurological alterations.