Ontology highlight
ABSTRACT:
SUBMITTER: Ngoh A
PROVIDER: S-EPMC4864753 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Ngoh Adeline A Bras Jose J Guerreiro Rita R Meyer Esther E McTague Amy A Dawson Eleanor E Mankad Kshitij K Gunny Roxana R Clayton Peter P Mills Philippa B PB Thornton Rachel R Lai Ming M Forsyth Robert R Kurian Manju A MA
Epilepsia 20160408 5
Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the brainstem and cerebellum. We report two male siblings who presented with early infantile clonic seizures, and then developed infantile spasms associated with prominent isolated cerebellar hypoplasia/atrophy on magnetic resonance imaging (MRI). Using whole exome sequencing techniques, both were found to be compound heterozygotes for one previously reported and one novel mutat ...[more]