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). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late-onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone.

[Panic attacks simulated by occipital lobe seizures]. / Als Panikattacken imponierende Occipitallappenanfälle.

Eleven-year-old Stephanie was admitted to a child and adolescent psychiatry day hospital with symptoms of an anxiety and panic disorder, and compulsive and self-harmful behavior. The patient described detailed threatening scenic sequences that caused her to feel panicky. They symptoms could be classified as epilepsy with visually dominated seizures of the occipital lobe. In addition to pharmacological treatment with oxcabazepine, extensive multimodal interventions as part of the child and adolescent psychiatric day hospital treatment program helped all family members to understand and handle the seizures. Eight weeks after initiation of treatment, Stephanie was seizure-free. Complex partial epilepsy can be mistaken for primary child-psychiatric disorder.

[Febrile seizures--an update]. / Fieberkrämpfe--Update.

Febrile seizures are most common seizures in childhood (2-4%). Children with simple febrile seizures only have a slightly increased risk of epilepsy. Recurrences are common. Diagnostic ascertainment is easy, most evaluations simple, diagnostic routine schedules almost not necessary. Prophylactic antipyretic or anticonvulsant therapies are not recommended. Administration of rectal diazepam at home in case of recurrence is useful. Adequate therapeutical approach also includes physicians guidance and information for the dramatically frightened parents who think their child was about to die. Only complex febrile seizures with high risk of subsequent epilepsy may indicate intermittent diazepam prophylaxis or even continuous anticonvulsant treatment in case of a beginning epileptic syndrome.

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. Previous linkage analyses defined three susceptibility loci on chromosomes 19q12-q13.11, 16p12-q12, and 2q23-31. However, a responsible gene has not been identified. We studied linkage in 16 further BFIC families. METHODS: We collected 16 BFIC families, without an additional paroxysmal movement disorder, of German, Turkish, or Japanese origin with two to eight affected individuals. Standard two-point linkage analysis was performed. RESULTS: The clinical picture included a large variety of seizure semiologies ranging from paleness and cyanosis with altered consciousness to generalized tonic-clonic seizures. Interictal EEGs showed focal epileptiform discharges in six patients, and three ictal EEGs in three distinct patients revealed a focal seizure onset in different brain regions. In all analyzed families, we found no evidence for linkage to the BFIC loci on chromosomes 19q and 2q, as well as to the known loci for benign familial neonatal convulsions on chromosomes 8q and 20q. In 14 of the families, the chromosome 16 locus could be confirmed with a cumulative maximum two-point lod score of 6.1 at marker D16S411, and the known region for BFIC could be narrowed to 22.5 Mbp between markers D16S690 and D16S3136. CONCLUSIONS: Our data confirm the importance of the chromosome 16 locus for BFIC and may narrow the relevant interval.