Ontology highlight
ABSTRACT:
SUBMITTER: Willows J
PROVIDER: S-EPMC6694456 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Willows Jamie J Al Badi Maryam M Richardson Chloe C Al Sinani Aisha A Edwards Noel N Rice Sarah S Sayer John A JA
F1000Research 20190515
Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised. Affected patients can present with severe symptoms of hypomagnesaemia, such as seizures or cardiac arrhythmia. We report an affected child, from a consanguineous family, who presented in the first weeks of life with seizures secondary to hypomagnesaemia, without other associated clinical features. We performed whole exome sequencing in the affected child and segregation analysis within the family, which revealed ...[more]