John Libbey Eurotext

STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizable developmental and epileptic encephalopathy Article à paraître

Illustrations

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Auteurs
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 All India Institute of Medical Sciences Ringgold standard institution – Pediatrics, AIIMS, New Delhi, New Delhi 110029, India

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 early-onset DEE for which the characteristic physical findings can clinch [...]