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Editorial
. 2022 Apr 22:19:100546.
doi: 10.1016/j.ebr.2022.100546. eCollection 2022.

A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls

I Cursio  1   2 , N Ronzano  1 , M Asunis  1 , M S Dettori  1 , S Cossu  1 , S Murru  3 , M Cau  3   4 , F Incani  3 , D Mei  5 , C Bianchini  5 , M Scioni  6 , D Pruna  1
Affiliations
Editorial

A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls

I Cursio et al. Epilepsy Behav Rep. .

Abstract

We describe a complex family with two couples (two sisters who married two brothers) with consistent social and neuropsychiatric problems, originally from Sardinia. Each couple had three daughters, which shared electroclinical epileptic syndrome and developmental disorders. All patients suffered from mild to moderate intellectual disability, speech difficulties and behavioural disorders. Four out of six patients had epilepsy onset between 3 and 4 years of age. The epileptic history almost reflected the typical clinical course of a self-Limited Focal Epilepsy of Childhood. However, our patients don't have the complete features characteristic of one of the four specific self-Limited Focal Epilepsies of Childhood; a progressive evolution into a Developmental and/or Epileptic Encephalopathy with spike-wave activation in sleep was observed in the two older sister of the first family, which developed more severe developmental disorder too. In the other epileptic patients, improvement of EEG pattern was not coincident with an improvement of the developmental disorders. Brain MRI, performed in three patients, showed normal findings. Genetic analysis carried out so far (SNP-array, study of Runs of homozygosity, FMR1 triplet-repeat primer-PCR assay, Next Generation Sequencing based gene panel for epilepsy and neurodevelopmental disorders and Exome Sequencing), did not provide useful elements for an aetiological diagnosis.

Keywords: Developmental and/or Epileptic Encephalopathy with spike-wave activation in sleep; Genetic testing Developmental disorders; Self-Limited Epilepsy with Centrotemporal Spikes; Self-Limited Focal Epilepsies of Childhood.

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Conflict of interest statement

None of the authors has any conflict of interest to disclose.

Figures

Fig. 1
Fig. 1
Genealogical three. (I:2; psychotic disorder/trouble with the law, I:4; Major Depressive Disorder).
Fig. 2
Fig. 2
Patient II:1, Initial EEG recording at seizure onset showing fronto-centro-temporal spikes with activation during sleep (2010).
Fig. 3
Fig. 3
Patient II:1, EEG recording showing electroclinical worsening, with bursts of spike-and-waves most evident in fronto-central regions and a Spike Index > 90%. (2013).
Fig. 4
Fig. 4
Patient II:1, EEG recording after epilepsy resolution showed a normal pattern (2018–2020).
See this image and copyright information in PMC

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