Benign Neonatal Epilepsy, Nonfamilial

Last update 01 Nov 2024

Basic Info

Synonyms

Benign Neonatal Epilepsy, Nonfamilial, Benign Neonatal Non Familial Convulsions, Benign Neonatal Non-Familial Convulsions

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Introduction

A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.

100 Clinical Results associated with Benign Neonatal Epilepsy, Nonfamilial

100 Translational Medicine associated with Benign Neonatal Epilepsy, Nonfamilial

0 Patents (Medical) associated with Benign Neonatal Epilepsy, Nonfamilial

Literatures (Medical) associated with Benign Neonatal Epilepsy, Nonfamilial

01 Oct 2024·Epilepsy & Behavior

Retrospective study on neonatal seizures in a tertiary center of northern Italy after ILAE classification: Incidence, seizure type, EEG and etiology

Article

Author: Bassi, Laura ; De Carli, Agnese ; Barbieri, Sergio ; Mosca, Fabio ; Mastrangelo, Massimo ; Peruzzi, Cinzia ; Consonni, Dario ; Cappellari, Alberto M ; Dilena, Robertino ; Molisso, Maria T ; Fumagalli, Monica ; Bana, Cristina ; La Briola, Francesca ; Striano, Pasquale ; Di Benedetto, Alessia ; Circiello, Alberta ; Mauri, Eleonora ; Granata, Tiziana ; Raviglione, Federico ; Pisoni, Silvia

OBJECTIVEWe aimed to evaluate epidemiology, seizure type, EEG, and etiology of neonatal seizures (NS) in a tertiary neonatal intensive care unit.METHODSData on infants with a neurophysiological confirmation of NS were collected between 2009 and 2022. Seizure types and epileptic syndromes were classified by the ILAE classification and EEG by the Italian Neonatal Seizure Collaborative Network (INNESCO) score.RESULTSOut of 91,253 neonates, 145 presented with NS; 69.7 % were born at term and 30.3 % were preterm infants. The incidence of NS in neonates born at our center was 1.2 per 1,000 live newborns (96/80697 neonates) while in the entire neonatal population admitted to our center it was 1.6 per 1,000 live births, increasing with lower preterm age. Compared to previous studies, we found a lower proportion of hypoxic-ischemic encephalopathy (HIE) (23.4 %) and a higher rate of genetic contribution (26.2 %). The infection rate was higher in preterm (31.8 %) than in full term (9.9 %) infants. Electrographic seizures were associated with acute provoked seizures (35.9 %), preterm age (52.3 %), and HIE (52.9 %). Vascular etiology was associated with focal clonic seizures (56.8 %). Non-structural neonatal genetic epilepsy was associated with sequential seizures (68.2 %), particularly KCNQ2 and SCN2A epilepsy. Background EEG was abnormal in all HIE, infections (85.7 %) and metabolic NS (83.3 %). In genetic epilepsy, background EEG depended on the epileptic syndrome: normal in 80 % of self-limited neonatal epilepsy and abnormal in 77.8 % of developmental and epileptic encephalopathy. Electroclinical seizures were associated with focal onset, while electrographic seizures correlated with a multifocal onset.CONCLUSIONSA low incidence of HIE and a high incidence of genetic etiology were observed in our cohort of NS. Seizure type and EEG features are fundamental to address etiology.

01 Jan 2009·Brain and DevelopmentQ4 · MEDICINE

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions

Q4 · MEDICINE

Article

Author: Akiyo Hamachi ; Goryu Fukuma ; Motohiro Okada ; Akihisa Mitsudome ; Akira Uehara ; Sunao Kaneko ; Takahito Inoue ; Midori Yasukochi ; Sawa Yasumoto ; Atsushi Ishii ; Shinichi Hirose ; Tasuku Miyajima ; Yoshio Makita

BACKGROUNDThe underlying genetic abnormalities of rare familial idiopathic epilepsy have been identified, such as mutation in KCNQ2, a K(+) channel gene. Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e., sporadic idiopathic epilepsy, which share a phenotype similar to those of familial epilepsy.OBJECTIVETo search for the genetic cause of seizures in a girl with the diagnosis of non-familial benign neonatal convulsions, and define the consequence of the genetic abnormality identified.METHODSGenetic abnormality was explored within candidate genes for benign familial neonatal and infantile convulsions, such as KCNQ2, 3, 5, KCNE2, SCN1A and SCN2A. The electrophysiological properties of the channels harboring the identified mutation were examined. Western blotting and immunostaining were employed to characterize the expression and intracellular localization of the mutant channel molecules.RESULTSA novel heterozygous mutation (c.910-2delTTC or TTT, Phe304del) of KCNQ2 was identified in the patient. The mutation was de novo verified by parentage analysis. The mutation was associated with impaired functions of KCNQ K(+) channel. The mutant channels were expressed on the cell surface.CONCLUSIONThe mutant Phe304del of KCNQ2 leads to null function of the KCNQ K(+) channel but the mutation does not alter proper channel sorting onto the cell membrane. Our findings indicate that the genes responsible for rare inherited forms of idiopathic epilepsy could be also involved in sporadic forms of idiopathic epilepsy and expand our notion of the involvement of molecular mechanisms in the more common forms of idiopathic epilepsy.

01 May 1999·Developmental Medicine & Child NeurologyQ1 · MEDICINE

Epilepsies of neonatal onset: seizure type and evolution

Q1 · MEDICINE

Article

Author: Sunao Furune ; Kazuyoshi Watanabe ; Akihisa Okumura ; Kiyokuni Miura ; Jun Natsume ; Fumio Hayakawa

Most neonatal seizures are occasional seizures and not true epilepsy. This study investigates seizure types of true neonatal epilepsies and their evolution with development. Seventy-five children with epilepsies of onset within 1 month of life, who were examined between 1970 and 1995, and whose seizure types could be confirmed with ictal EEG recordings, were studied. The patients were followed up for a minimum of 3 years and the evolution of epileptic syndromes was investigated. Sixty-three (84%) of 75 patients had partial seizures, while nine had generalized seizures, and only three had both generalized and partial seizures. Twenty-three of 24 neonates with benign familial or non-familial neonatal convulsions presented with partial seizures; these syndromes should not necessarily be categorized into generalized epilepsy as they are in the present International Classification. Age-dependent changes were a common feature of symptomatic neonatal epilepsies. Eighteen (41%) of 44 patients with symptomatic epilepsies of neonatal onset developed West syndrome in infancy. Fifteen (83%) of these 18 patients presented with symptomatic localization-related epilepsy in the neonatal period. In seven of these 15 patients, West syndrome was followed by localization-related epilepsy. Symptomatic localization-related epilepsy with transient West syndrome in infancy is another type of age-dependent epileptic syndrome.

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Benign Neonatal Epilepsy, Nonfamilial

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