Parents

Alterations in the ARF1 gene can cause a condition that mainly affects the brain. Children with this condition often have learning difficulties and delays in their development, like talking and walking. Some may have smaller than usual head (microcephaly) and seizures. Sometimes, the brain develops differently, with clumps of nerve cells in the wrong place (periventricular nodular heterotopia). These changes in the ARF1 gene usually happen for the first time in the affected child and are not inherited from the parents.