Genetic heterogeneity in infantile spasms

EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS. To better understand the genetic landscape of IS, we used targeted sequencing to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 individual with IS. We identified a genetic diagnosis for 7.6% of our cohort, including pathogenic variants in KCNB1 (n = 2), GNAO1 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBL1XR1 (n = 1), and KIF1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis and management of individuals with this devastating disorder.

OriginalsprogEngelsk
Artikelnummer106181
TidsskriftEpilepsy Research
Vol/bind156
Antal sider5
ISSN0920-1211
DOI
StatusUdgivet - okt. 2019

Fingeraftryk

Genetic Heterogeneity
Incidence

Citer dette

EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen (2019). Genetic heterogeneity in infantile spasms. Epilepsy Research, 156, [106181]. https://doi.org/10.1016/j.eplepsyres.2019.106181
EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen. / Genetic heterogeneity in infantile spasms. I: Epilepsy Research. 2019 ; Bind 156.
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title = "Genetic heterogeneity in infantile spasms",
abstract = "Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS. To better understand the genetic landscape of IS, we used targeted sequencing to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 individual with IS. We identified a genetic diagnosis for 7.6{\%} of our cohort, including pathogenic variants in KCNB1 (n = 2), GNAO1 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBL1XR1 (n = 1), and KIF1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis and management of individuals with this devastating disorder.",
keywords = "Epilepsy, Genetic diagnosis, Infantile spasms, Targeted sequencing, West syndrome",
author = "Muir, {Alison M.} and Myers, {Candace T.} and Nguyen, {Nancy T.} and Julia Saykally and Dana Craiu and {De Jonghe}, Peter and Ingo Helbig and Dorota Hoffman-Zacharska and Renzo Guerrini and Anna-Elina Lehesjoki and Carla Marini and M{\o}ller, {Rikke S.} and Jose Serratosa and Katalin Štěrbov{\'a} and Pasquale Striano and {von Spiczak}, Sarah and Sarah Weckhuysen and Mefford, {Heather C.} and {EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen}",
year = "2019",
month = "10",
doi = "10.1016/j.eplepsyres.2019.106181",
language = "English",
volume = "156",
journal = "Epilepsy Research",
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EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen 2019, 'Genetic heterogeneity in infantile spasms', Epilepsy Research, bind 156, 106181. https://doi.org/10.1016/j.eplepsyres.2019.106181

Genetic heterogeneity in infantile spasms. / EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen.

I: Epilepsy Research, Bind 156, 106181, 10.2019.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Genetic heterogeneity in infantile spasms

AU - Muir, Alison M.

AU - Myers, Candace T.

AU - Nguyen, Nancy T.

AU - Saykally, Julia

AU - Craiu, Dana

AU - De Jonghe, Peter

AU - Helbig, Ingo

AU - Hoffman-Zacharska, Dorota

AU - Guerrini, Renzo

AU - Lehesjoki, Anna-Elina

AU - Marini, Carla

AU - Møller, Rikke S.

AU - Serratosa, Jose

AU - Štěrbová, Katalin

AU - Striano, Pasquale

AU - von Spiczak, Sarah

AU - Weckhuysen, Sarah

AU - Mefford, Heather C.

AU - EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen

PY - 2019/10

Y1 - 2019/10

N2 - Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS. To better understand the genetic landscape of IS, we used targeted sequencing to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 individual with IS. We identified a genetic diagnosis for 7.6% of our cohort, including pathogenic variants in KCNB1 (n = 2), GNAO1 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBL1XR1 (n = 1), and KIF1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis and management of individuals with this devastating disorder.

AB - Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS. To better understand the genetic landscape of IS, we used targeted sequencing to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 individual with IS. We identified a genetic diagnosis for 7.6% of our cohort, including pathogenic variants in KCNB1 (n = 2), GNAO1 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBL1XR1 (n = 1), and KIF1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis and management of individuals with this devastating disorder.

KW - Epilepsy

KW - Genetic diagnosis

KW - Infantile spasms

KW - Targeted sequencing

KW - West syndrome

U2 - 10.1016/j.eplepsyres.2019.106181

DO - 10.1016/j.eplepsyres.2019.106181

M3 - Journal article

C2 - 31394400

AN - SCOPUS:85071994766

VL - 156

JO - Epilepsy Research

JF - Epilepsy Research

SN - 0920-1211

M1 - 106181

ER -

EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen. Genetic heterogeneity in infantile spasms. Epilepsy Research. 2019 okt;156. 106181. https://doi.org/10.1016/j.eplepsyres.2019.106181