[Electroencephalographic changes in sisters with infantile-onset dentatorubral-pallidoluysian atrophy (DRPLA)].

We report the clinical course and results of electroencephalographic (EEG) examinations in 2 sisters with infantile dentatorubral pallidoluysian atrophy (DRPLA). Typical development was seen until the age of 6 months. From that age, however, development was delayed.

[Public support systems for disabled children and adults].

Many patients in child neurology over 15 years old are carried by their cares to clinics for treatments. Child neurologists have to give to their patients and their families a lot of information about public support systems in their clinics. This paper investigates the public support systems in Japan that are presently available for disabled children and adults.

[Pediatric neurologist and medical practice after adolescence: introductory remarks].

Medical practice after adolescence in child neurology was discussed. Major issues to be solved included; who should play major role in the practice, what medical facilities are available for inpatients, how medical networks are built in the community (especially for disabled patients), and which medical benefits were required to support patients after the cessation of support for childhood disorders. As child neurologists, we must decide whether we need training in adult neurology as an elective course or compulsory.

[Social support by an academic meeting].

This report is made for the Japanese Society of Child Neurology to determine the social problems regarding handicapped children and youngsters. In 2002, Social Activity and Public Relations Committee was organized in the Society, and immediately pointed out some social problems, such as medical care for severely handicapped children in special schools.

[Multicenter study of occipital lobe epilepsy in childhood: clinical characteristics].

We investigated the clinical characteristics of 54 patients with childhood onset occipital lobe epilepsy (OLE). There were 25 patients of symptomatic OLE (cortical dysplasia, post encephalitis or encephalopathy, brain tumor and so on), and 29 cases of cryptogenic OLE. Eighteen patients had positive visual symptoms such as flash light, bright spots and sparks of light, 23 patients had negative ones such as scotoma, hemianopia and amaurosis and 10 patients had other complicated visual symptoms such as change of the shape or colors.

Haploinsufficiency of NSD1 causes Sotos syndrome.

We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.