title: Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy.
abstract: Migrating partial seizures in infancy (MPSI) are an age-specific epilepsy syndrome characterized by migrating focal seizures, which are intractable to various antiepileptic drugs and cause severe developmental delay. We report a case of MPSI with heterozygous missense mutation in KCNT1, which was successfully managed by ketogenic diet. At age 2months, the patient developed epilepsy initially manifesting focal seizures with eye deviation and apnea, then evolving to secondarily generalized clonic convulsion. Various antiepileptic drugs including phenytoin, valproic acid, zonisamide, clobazam, levetiracetam, vitamin B6, and carbamazepine were not effective, but high-dose phenobarbital allowed discontinuation of midazolam infusion. Ictal scalp electroencephalogram showed migrating focal seizures. MPSI was suspected and she was transferred to our hospital for further treatment. Potassium bromide (KBr) was partially effective, but the effect was transient. High-dose KBr caused severe adverse effects such as over-sedation and hypercapnia, with no further effects on the seizures. At age 9months, we started a ketogenic diet, which improved seizure frequency and severity without obvious adverse effects, allowing her to be discharged from hospital. Ketogenic diet should be tried in patients with MPSI unresponsive to antiepileptic drugs. In MPSI, the difference in treatment response in patients with and those without KCNT1 mutation remains unknown. Accumulation of case reports would contribute to establish effective treatment options for MPSI.
authors.affiliation: National Epilepsy Center, NHO, Shizuoka Institute of Epilepsy and Neurological Disorders, Japan. Electronic address: mori.tatsuo@tokushima-u.ac.jp.
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Mori
authors.affiliation: National Epilepsy Center, NHO, Shizuoka Institute of Epilepsy and Neurological Disorders, Japan.
authors.forename: Katsumi
authors.initials: K
authors.lastname: Imai
authors.affiliation: National Epilepsy Center, NHO, Shizuoka Institute of Epilepsy and Neurological Disorders, Japan.
authors.forename: Taikan
authors.initials: T
authors.lastname: Oboshi
authors.affiliation: Department of Pediatrics, Yokohama City University Medical Center, Japan.
authors.forename: Yuh
authors.initials: Y
authors.lastname: Fujiwara
authors.affiliation: Department of Pediatrics, Yokohama City University Medical Center, Japan.
authors.forename: Saoko
authors.initials: S
authors.lastname: Takeshita
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: National Epilepsy Center, NHO, Shizuoka Institute of Epilepsy and Neurological Disorders, Japan.
authors.forename: Yukitoshi
authors.initials: Y
authors.lastname: Takahashi
authors.affiliation: National Epilepsy Center, NHO, Shizuoka Institute of Epilepsy and Neurological Disorders, Japan.
authors.forename: Yushi
authors.initials: Y
authors.lastname: Inoue
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000503:physiopathology; D003131:Combined Modality Therapy / Q000379:methods; D055423:Diet, Ketogenic; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000178:diet therapy* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D009419:Nerve Tissue Proteins / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics; D000081033:Potassium Channels, Sodium-Activated; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; C585122:KCNT1 protein, human; D009419:Nerve Tissue Proteins; D015221:Potassium Channels; D000081033:Potassium Channels, Sodium-Activated
keywords: Bromide; Ketogenic diet; Migrating partial seizures in infancy (MPSI); Potassium channel subfamily T member 1 (KCNT1)