John Libbey Eurotext

STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizable developmental and epileptic encephalopathy Volume 24, issue 3, June 2022

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Authors
1 Department of Pediatric Neurology, Amrita Institute of Medical Sciences, Kochi, Kerala, India
2 Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
3 Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
4 Department of Biophysics, All India Institute of Medical Sciences, New Delhi, India
5 Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India
* Correspondence: Prashant Jauhari

Developmental and epileptic encephalopathy (DEE) represents conditions in which both the underlying genetic aetiology and the ongoing epileptic activity are responsible for developmental delay or regression [1]. Many of these disorders present with seizure onset before three months of age and are known as early-onset DEE. Microcephaly-capillary malformation syndrome (MIC-CAP syndrome; OMIM: 614261) is a recently recognized earlyonset DEE for which the characteristic physical findings can clinch [...]