PRRT2 mutations are the major cause of benign familial infantile seizures.

Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases).

Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient.

Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder, characterized by severe muscular dystrophy associated with brain malformation. FCMD is the second most common form of muscular dystrophy and one of the most common autosomal recessive diseases among the Japanese population; however, no typical FCMD cases have been reported in any other population. In this study, we report on the first identification of a Chinese FCMD patient; our findings are supported by clinical, histological, and magnetic resonance imaging (MRI) evidence, as well as fukutin gene mutational analyses.

[Fukuyama congenital muscular dystrophy--history and perspectives].

Congenital muscular dystrophy (CMD) is a newly established group of progressive muscular dystrophy, comprising a number of new entities, including Fukuyama congenital muscular dystrophy (FCMD). Victor Dubowitz (1997) wrote that to go back to the "dark ages", when there was still no CMD, we do not need to go back all that far; in the 1960s, many people were not recognizing the existence of CMD or in fact actively denying it. In 1960, Fukuyama and his colleagues published a short report of 15 CMD cases, delineating 9 clinical diagnostic criteria.

[The whole story of discovery of Fukuyama congenital muscular dystrophy].

Fukuyama congenital muscular dystrophy (FCMD) is a unique autosomal recessively inherited condition which is characterized by a combination of systemic progressive muscular dystrophy (PMD), severe cerebrocerebellar cortical malformation in association with/without retinal derrangement of very early onset. FCMD is the second most prevalent type of PMD in Japan, while it is extremely rare outside Japan. Historically, the first half of the 20th century was a dark age in terms of CMD.

[Acute non-herpetic encephalitis with severe refractory status epilepticus --its overwhelming ictogenicity, epileptogenicity, long-term prognosis and review of the literature].

In 1980s, the authors experienced 5 patients with "a peculiar form of acute encephalitis/encephalopathy "which is characterized by three features: 1. Complex partial seizures with secondary generalization recur incessantly or continue persistently without regaining consciousness for many days in spite of intensive diazepam (DZP) therapy; usually general anesthesia at ICU setting for 2-3 weeks becomes mandatory. 2.

Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions.

Paroxysmal kinesigenic choreoathetosis (PKC) is presently clearly designated as a familial movement disorder with autosomal dominant inheritance. We identified a family of PKC, in which 6 out of 23 members were affected, and 4 of the affected members had a history of infantile convulsions. Thus, this family was also considered as a case of infantile convulsions with paroxysmal choreoathetosis (ICCA).

Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.

Purpose: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is characterized by clusters of afebrile seizures occurring around the sixth month of life. The disease has a benign course with a normal development and rare seizures in adulthood.

Rasmussen syndrome: multifocal spread of inflammation suggested from MRI and PET findings.

Background: A 6-year-old girl with Rasmussen syndrome (RS) showed multiple small high-signal-intensity areas independently in the right hemisphere by fluid-attenuated inversion recovery (FLAIR) imaging on magnetic resonance imaging (MRI) 1 year after the onset of epilepsy.

Methods: MRI performed 4 months later demonstrated a further increase in the number of these foci and enlargement in the size of the previous FLAIR lesions.

Results: An [18F]-fluorodeoxyglucose-positron emission tomography (FDG-PET) study showed a strong, spotty uptake in the right temporooccipital regions, corresponding to the sites of continuous EEG seizure discharges.

[A case of idiopathic torsion dystonia showing blepharospasm at the onset].

We report a 12-year-old boy with idiopathic torsion dystonia. Blepharospasm appeared at the age of 10, followed by truncal hypertonia and progressive scoliosis after 1 year. He had bizarre involuntary movement of his limbs upon waking, which was initially misinterpreted as a psychogenic reaction.