Article
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Clinical genetics - 1 Sept 2023
Yousaf Hammad, Rehmat Shagufta, Jameel Muhammad, Ibrahim Rabab, Hashmi Sohana Nadeem, Makhdoom Ehtisham Ul Haq, Iwaszkiewicz Justyna, Saadi Saadia Maryam, Tariq Muhammad, Baig Shahid M, Toft Mathias, Fatima Ambrin, Iqbal Zafar
Abstract excerpt
Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS, OMIM#619150) is an ultra-rare childhood-onset autosomal recessive movement disorder manifesting paroxysmal dyskinesia, global developmental delay, impaired cognition, progressive psychomotor deterioration and/or drug-refractory seizures. We investigated three consanguineous Pakistani families with six affected individuals...
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