Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation

Subcortical band heterotopia (SBH), also known as double cortex syndrome, is a malformation of cortical development caused by inherited or somatic gene variants. We present a case of a young adult with posterior SBH and electroclinical features of focal neocortical temporal lobe epilepsy. Genomic bl...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Frank G. Gilliam, Paddy Ssentongo, Michael Sather, Yuka I. Kawasawa
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	band heterotopia LIS1 gene temporal lobe epilepsy responsive neurostimulation (RNS) PAFAH1B1 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/55404b046fce4c8d9369b874c9eb7e88
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:55404b046fce4c8d9369b874c9eb7e88
record_format	dspace
spelling	oai:doaj.org-article:55404b046fce4c8d9369b874c9eb7e882021-11-18T05:27:35ZCase Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation1664-229510.3389/fneur.2021.779113https://doaj.org/article/55404b046fce4c8d9369b874c9eb7e882021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fneur.2021.779113/fullhttps://doaj.org/toc/1664-2295Subcortical band heterotopia (SBH), also known as double cortex syndrome, is a malformation of cortical development caused by inherited or somatic gene variants. We present a case of a young adult with posterior SBH and electroclinical features of focal neocortical temporal lobe epilepsy. Genomic blood analysis identified a pathogenic somatic mosaicism duplication variant of the PAFAH1B1 gene. Despite bilateral cortical MRI abnormalities, the interictal and ictal EEG findings indicated a focal epileptogenic region in the left posterior temporal region. Chronic responsive cortical neurostimulation across two four-contact depth electrodes placed 5 mm on either side of the maximal interictal spiking identified during intraoperative electrocorticography resulted in a consistent 28% reduction in duration of electrographic seizures and as well as constricted propagation. Although electrographic seizures continued, the family reported no clinical seizures and a marked improvement in resistant behaviors. This observation supports that focal neocortical neuromodulation can control clinical seizures of consistently localized origin despite genetic etiology, bilateral structural brain abnormalities, and continuation of non-propagating electrographic seizures. We propose that a secondary somatic mutation may be the cause of the focal neocortical temporal lobe epilepsy.Frank G. GilliamPaddy SsentongoPaddy SsentongoMichael SatherYuka I. KawasawaFrontiers Media S.A.articleband heterotopiaLIS1 genetemporal lobe epilepsyresponsive neurostimulation (RNS)PAFAH1B1Neurology. Diseases of the nervous systemRC346-429ENFrontiers in Neurology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	band heterotopia LIS1 gene temporal lobe epilepsy responsive neurostimulation (RNS) PAFAH1B1 Neurology. Diseases of the nervous system RC346-429
spellingShingle	band heterotopia LIS1 gene temporal lobe epilepsy responsive neurostimulation (RNS) PAFAH1B1 Neurology. Diseases of the nervous system RC346-429 Frank G. Gilliam Paddy Ssentongo Paddy Ssentongo Michael Sather Yuka I. Kawasawa Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation
description	Subcortical band heterotopia (SBH), also known as double cortex syndrome, is a malformation of cortical development caused by inherited or somatic gene variants. We present a case of a young adult with posterior SBH and electroclinical features of focal neocortical temporal lobe epilepsy. Genomic blood analysis identified a pathogenic somatic mosaicism duplication variant of the PAFAH1B1 gene. Despite bilateral cortical MRI abnormalities, the interictal and ictal EEG findings indicated a focal epileptogenic region in the left posterior temporal region. Chronic responsive cortical neurostimulation across two four-contact depth electrodes placed 5 mm on either side of the maximal interictal spiking identified during intraoperative electrocorticography resulted in a consistent 28% reduction in duration of electrographic seizures and as well as constricted propagation. Although electrographic seizures continued, the family reported no clinical seizures and a marked improvement in resistant behaviors. This observation supports that focal neocortical neuromodulation can control clinical seizures of consistently localized origin despite genetic etiology, bilateral structural brain abnormalities, and continuation of non-propagating electrographic seizures. We propose that a secondary somatic mutation may be the cause of the focal neocortical temporal lobe epilepsy.
format	article
author	Frank G. Gilliam Paddy Ssentongo Paddy Ssentongo Michael Sather Yuka I. Kawasawa
author_facet	Frank G. Gilliam Paddy Ssentongo Paddy Ssentongo Michael Sather Yuka I. Kawasawa
author_sort	Frank G. Gilliam
title	Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation
title_short	Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation
title_full	Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation
title_fullStr	Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation
title_full_unstemmed	Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation
title_sort	case report: pafah1b1 mutation and posterior band heterotopia with focal temporal lobe epilepsy treated by responsive neurostimulation
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/55404b046fce4c8d9369b874c9eb7e88
work_keys_str_mv	AT frankggilliam casereportpafah1b1mutationandposteriorbandheterotopiawithfocaltemporallobeepilepsytreatedbyresponsiveneurostimulation AT paddyssentongo casereportpafah1b1mutationandposteriorbandheterotopiawithfocaltemporallobeepilepsytreatedbyresponsiveneurostimulation AT paddyssentongo casereportpafah1b1mutationandposteriorbandheterotopiawithfocaltemporallobeepilepsytreatedbyresponsiveneurostimulation AT michaelsather casereportpafah1b1mutationandposteriorbandheterotopiawithfocaltemporallobeepilepsytreatedbyresponsiveneurostimulation AT yukaikawasawa casereportpafah1b1mutationandposteriorbandheterotopiawithfocaltemporallobeepilepsytreatedbyresponsiveneurostimulation
_version_	1718424911215591424

Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation

Ejemplares similares