Mutations in SPTAN1 gene are responsible for a wide spectrum of neurodevelopmental disorders including early-onset epileptic encephalopathy with progressive brain atrophy, severe intellectual disability with cerebellar malformations, and relatively milder phenotypes with or without epilepsy. Herein, we report three affected individuals including two siblings of 13 and 8 years and their 39-year-old mother, carrying a novel pathogenic variant in SPTAN1 gene. The phenotype of the index cases and their mother was remarkable for the variable expressivity, including benign convulsions with mild gastroenteritis, intellectual disability and developmental encephalopathy with epilepsy. Our clinical observation suggests for the first time that variants in SPTAN1 gene might be involved in the aetiology of benign convulsions correlated with mild gastroenteritis.

Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy / Terrone, Gaetano; Pinelli, Michele; Bernardo, Pia; Parrini, Elena; Imperati, Floriana; BRUNETTI PIERRI, Nicola; DEL GIUDICE, Ennio. - In: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. - ISSN 1532-2130. - (2020). [10.1016/j.ejpn.2020.07.008]

Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy

Gaetano Terrone
;
Michele Pinelli;Pia Bernardo;Nicola Brunetti-Pierri;Ennio Del Giudice
2020

Abstract

Mutations in SPTAN1 gene are responsible for a wide spectrum of neurodevelopmental disorders including early-onset epileptic encephalopathy with progressive brain atrophy, severe intellectual disability with cerebellar malformations, and relatively milder phenotypes with or without epilepsy. Herein, we report three affected individuals including two siblings of 13 and 8 years and their 39-year-old mother, carrying a novel pathogenic variant in SPTAN1 gene. The phenotype of the index cases and their mother was remarkable for the variable expressivity, including benign convulsions with mild gastroenteritis, intellectual disability and developmental encephalopathy with epilepsy. Our clinical observation suggests for the first time that variants in SPTAN1 gene might be involved in the aetiology of benign convulsions correlated with mild gastroenteritis.
2020
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy / Terrone, Gaetano; Pinelli, Michele; Bernardo, Pia; Parrini, Elena; Imperati, Floriana; BRUNETTI PIERRI, Nicola; DEL GIUDICE, Ennio. - In: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. - ISSN 1532-2130. - (2020). [10.1016/j.ejpn.2020.07.008]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/816601
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