Is benign familial neonatal KCNQ2-related epilepsy always familially benign?
A 1-year-old infant was referred for a diagnostic work-up, due to a past history of generalized clonic seizures migrating from one side of the body to the other side, of short duration, and presenting in cluster, occurred in the first days of life. He is a component a large family in whom several me...
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doaj-830befd87dfa4dd0946a84333af484772020-11-25T02:44:17ZengHygeia Press di Corridori MarinellaJournal of Pediatric and Neonatal Individualized Medicine2281-06922018-08-0172e070221e07022110.7363/070221570Is benign familial neonatal KCNQ2-related epilepsy always familially benign?Piero Pavone0Andrea D. Praticò1Raffaele Falsaperla2Pasquale Striano3Martino Ruggieri4Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, ItalyUnit of Pediatrics and Pediatric Emergency, Hospital "Policlinico – Vittorio Emanuele", University of Catania, Catania, ItalyUnit of Pediatrics and Pediatric Emergency, Hospital "Policlinico – Vittorio Emanuele", University of Catania, Catania, ItalyUnit of Pediatric Neurology, "G. Gaslini" Hospital, University of Genoa, Genoa, ItalySection of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, ItalyA 1-year-old infant was referred for a diagnostic work-up, due to a past history of generalized clonic seizures migrating from one side of the body to the other side, of short duration, and presenting in cluster, occurred in the first days of life. He is a component a large family in whom several members were diagnosed and described in a previous report as affected by benign familial neonatal epilepsy (BFNE). This family has been followed-up for three generations and examined by report carried out in a single center and a personal interview. In a recent revision of the family, some members do not share the classical features of BFNE: one had the seizures onset at 3 months, another presented complex febrile seizures with EEG anomalies, and one suffered from partial seizures lasting until the age of 10 years. Looking at the data drawn from this family, and those from the literature, the term “BFNE” should be used with caution.https://www.jpnim.com/index.php/jpnim/article/view/678neonatal seizuresfamilial epilepsybenign seizuresneonatal convulsionskcnq2 mutationkcnq3 mutation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Piero Pavone Andrea D. Praticò Raffaele Falsaperla Pasquale Striano Martino Ruggieri |
spellingShingle |
Piero Pavone Andrea D. Praticò Raffaele Falsaperla Pasquale Striano Martino Ruggieri Is benign familial neonatal KCNQ2-related epilepsy always familially benign? Journal of Pediatric and Neonatal Individualized Medicine neonatal seizures familial epilepsy benign seizures neonatal convulsions kcnq2 mutation kcnq3 mutation |
author_facet |
Piero Pavone Andrea D. Praticò Raffaele Falsaperla Pasquale Striano Martino Ruggieri |
author_sort |
Piero Pavone |
title |
Is benign familial neonatal KCNQ2-related epilepsy always familially benign? |
title_short |
Is benign familial neonatal KCNQ2-related epilepsy always familially benign? |
title_full |
Is benign familial neonatal KCNQ2-related epilepsy always familially benign? |
title_fullStr |
Is benign familial neonatal KCNQ2-related epilepsy always familially benign? |
title_full_unstemmed |
Is benign familial neonatal KCNQ2-related epilepsy always familially benign? |
title_sort |
is benign familial neonatal kcnq2-related epilepsy always familially benign? |
publisher |
Hygeia Press di Corridori Marinella |
series |
Journal of Pediatric and Neonatal Individualized Medicine |
issn |
2281-0692 |
publishDate |
2018-08-01 |
description |
A 1-year-old infant was referred for a diagnostic work-up, due to a past history of generalized clonic seizures migrating from one side of the body to the other side, of short duration, and presenting in cluster, occurred in the first days of life. He is a component a large family in whom several members were diagnosed and described in a previous report as affected by benign familial neonatal epilepsy (BFNE). This family has been followed-up for three generations and examined by report carried out in a single center and a personal interview. In a recent revision of the family, some members do not share the classical features of BFNE: one had the seizures onset at 3 months, another presented complex febrile seizures with EEG anomalies, and one suffered from partial seizures lasting until the age of 10 years. Looking at the data drawn from this family, and those from the literature, the term “BFNE” should be used with caution. |
topic |
neonatal seizures familial epilepsy benign seizures neonatal convulsions kcnq2 mutation kcnq3 mutation |
url |
https://www.jpnim.com/index.php/jpnim/article/view/678 |
work_keys_str_mv |
AT pieropavone isbenignfamilialneonatalkcnq2relatedepilepsyalwaysfamiliallybenign AT andreadpratico isbenignfamilialneonatalkcnq2relatedepilepsyalwaysfamiliallybenign AT raffaelefalsaperla isbenignfamilialneonatalkcnq2relatedepilepsyalwaysfamiliallybenign AT pasqualestriano isbenignfamilialneonatalkcnq2relatedepilepsyalwaysfamiliallybenign AT martinoruggieri isbenignfamilialneonatalkcnq2relatedepilepsyalwaysfamiliallybenign |
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