Genotype-phenotype correlations in alternating hemiplegia of childhood.

Objective: Clinical severity of alternating hemiplegia of childhood (AHC) is extremely variable. To investigate genotype-phenotype correlations in AHC, we analyzed the clinical information and ATP1A3 mutations in patients with AHC.

Methods: Thirty-five Japanese patients who were clinically diagnosed with AHC participated in this study.

Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy.

Objective: There is little systematic data on early neurodevelopmental functioning of infants with Smith-Magenis syndrome, since early diagnosis is rare.

Methods: A boy with cytogenetically confirmed Smith-Magenis syndrome was videotaped at 4 months and 1 week of age. His posture and spontaneous movements were analysed without knowing the diagnosis.