Migrating Focal Seizure and KCNT1 Mutation 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.

We report a case of 6yearold boy who presented with a 1month history of neck pain, rightsided torticollis, with no neurological deficit on physical examination. Computed tomography (CT) and magnetic resonance imaging (MRI) of the brain and spine revealed an expansive intramedullary tumor in the cervical spine. Histopatho logic examination of the biopsy specimen revealed primary lowgrade glioma. This highlights the importance of physician's vigilance when diagnosing patients with common chief complaints such as torticollis and neck pain in order to avoid missing possible severe causes and to ensure patient management and prognosis.

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-monthold boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

Purpose: Subependymal giant cell astrocytomas (SEGAs) are a well-known complication of tuberous sclerosis complex (TSC). Treatment experience has been accumulated for several years. The aim of this study was to review our experiences in treatment of SEGAs and prognosis. Method: From March 2007 to March 2014, 161 TSC patients were diagnosed. Of 161 patients, 17 patients met diagnostic criteria of SEGAs. We reviewed clinical data of SEGA patients retrogradely. Results: Among 17 SEGAs patients, five patients underwent surgical treatment. Of five patients who underwent surgery, including two patients who underwent gamma knife surgery before tumorectomy, four patients underwent tumorectomy, and one patient underwent shunt operation. Out of four patients who underwent surgery, two patients with increased intracranial pressure (IICP) symptoms before surgery showed worse neurological outcome than the other two patients without IICP symptoms. Conclusion: Our experiences suggest that early surgical intervention should be considered as one of treatment modalities for asymptomatic SEGA patients.

Alice in wonderland syndrome (AWS) is a paroxysmal disorder with distorted body image, including altered perceptions of size, mass, or shape. In fact, altered body image is the classic symptom of AWS. However, young children and adolescents younger than 15 years with AWS usually show visual symptoms, including micropsia or teleopsia. The most common visual symptom with AWS is micropsia. There are several theories of the etiology of AWS, the most popular of which is migraine. The second most frequently mentioned etiologic theory of AWS is that it is infection-induced. Finally, abnormal brain electrical activity, such as epilepsy, is another possible cause of AWS. We herein report a case of 9-year-old boy who was admitted with visual disturbances characterized by microteleopsia and pelopsia. He denied headache, but his mother had a history of migraine. His general physical examination was unremarkable. Brain magnetic resonance imaging did not show any abnormal findings, but an electroencephalogram showed abnormal discharges. The patient was prescribed an antiepileptic drug, which improved his symptoms.