PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Sarah Heron; Bronwyn Grinton; Sara Kivity; Zaid Afawi; Sameer Zuberi; James Hughes; Claire Pridmore; Bree Hodgson; Xenia Iona; Lynette Sadleir; James Pelekanos; Eric Herlenius; Hadassa Goldberg-Stern; Haim Bassan; Eric Haan; Amos Korczyn; Alison Gardner; Mark Corbett; Jozef Gecz; Paul Thomas; JC Mulley; Samuel Berkovic; Ingrid Scheffer; Leanne Dibbens

doi:10.1016/j.ajhg.2011.12.003

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Sarah Heron, Bronwyn Grinton, Sara Kivity, Zaid Afawi, Sameer Zuberi, James Hughes, Claire Pridmore, Bree Hodgson, Xenia Iona, Lynette Sadleir, James Pelekanos, Eric Herlenius, Hadassa Goldberg-Stern, Haim Bassan, Eric Haan, Amos Korczyn, Alison Gardner, Mark Corbett, Jozef Gecz, Paul ThomasJC Mulley, Samuel Berkovic, Ingrid Scheffer, Leanne Dibbens

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Abstract

Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified heterozygous mutations in PRRT2, which encodes proline-rich transmembrane protein 2, in 14 of 17 families (82%) affected by BFIE, indicating that PRRT2 mutations are the most frequent cause of this disorder. We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. These findings show that mutations in PRRT2 cause both epilepsy and a movement disorder. Furthermore, PRRT2 mutations elicit pleiotropy in terms of both age of expression (infancy versus later childhood) and anatomical substrate (cortex versus basal ganglia).

Original language	English
Pages (from-to)	152-160
Number of pages	9
Journal	American Journal of Human Genetics
Volume	90
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2011.12.003
Publication status	Published - 13 Jan 2012

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Heron, S., Grinton, B., Kivity, S., Afawi, Z., Zuberi, S., Hughes, J., Pridmore, C., Hodgson, B., Iona, X., Sadleir, L., Pelekanos, J., Herlenius, E., Goldberg-Stern, H., Bassan, H., Haan, E., Korczyn, A., Gardner, A., Corbett, M., Gecz, J., ... Dibbens, L. (2012). PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome. American Journal of Human Genetics, 90(1), 152-160. https://doi.org/10.1016/j.ajhg.2011.12.003

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title = "PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome",

abstract = "Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified heterozygous mutations in PRRT2, which encodes proline-rich transmembrane protein 2, in 14 of 17 families (82%) affected by BFIE, indicating that PRRT2 mutations are the most frequent cause of this disorder. We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. These findings show that mutations in PRRT2 cause both epilepsy and a movement disorder. Furthermore, PRRT2 mutations elicit pleiotropy in terms of both age of expression (infancy versus later childhood) and anatomical substrate (cortex versus basal ganglia).",

author = "Sarah Heron and Bronwyn Grinton and Sara Kivity and Zaid Afawi and Sameer Zuberi and James Hughes and Claire Pridmore and Bree Hodgson and Xenia Iona and Lynette Sadleir and James Pelekanos and Eric Herlenius and Hadassa Goldberg-Stern and Haim Bassan and Eric Haan and Amos Korczyn and Alison Gardner and Mark Corbett and Jozef Gecz and Paul Thomas and JC Mulley and Samuel Berkovic and Ingrid Scheffer and Leanne Dibbens",

year = "2012",

month = jan,

day = "13",

doi = "10.1016/j.ajhg.2011.12.003",

language = "English",

volume = "90",

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journal = "American Journal of Human Genetics",

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Heron, S, Grinton, B, Kivity, S, Afawi, Z, Zuberi, S, Hughes, J, Pridmore, C, Hodgson, B, Iona, X, Sadleir, L, Pelekanos, J, Herlenius, E, Goldberg-Stern, H, Bassan, H, Haan, E, Korczyn, A, Gardner, A, Corbett, M, Gecz, J, Thomas, P, Mulley, JC, Berkovic, S, Scheffer, I & Dibbens, L 2012, 'PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome', American Journal of Human Genetics, vol. 90, no. 1, pp. 152-160. https://doi.org/10.1016/j.ajhg.2011.12.003

TY - JOUR

T1 - PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

AU - Heron, Sarah

AU - Grinton, Bronwyn

AU - Kivity, Sara

AU - Afawi, Zaid

AU - Zuberi, Sameer

AU - Hughes, James

AU - Pridmore, Claire

AU - Hodgson, Bree

AU - Iona, Xenia

AU - Sadleir, Lynette

AU - Pelekanos, James

AU - Herlenius, Eric

AU - Goldberg-Stern, Hadassa

AU - Bassan, Haim

AU - Haan, Eric

AU - Korczyn, Amos

AU - Gardner, Alison

AU - Corbett, Mark

AU - Gecz, Jozef

AU - Thomas, Paul

AU - Mulley, JC

AU - Berkovic, Samuel

AU - Scheffer, Ingrid

AU - Dibbens, Leanne

PY - 2012/1/13

Y1 - 2012/1/13

N2 - Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified heterozygous mutations in PRRT2, which encodes proline-rich transmembrane protein 2, in 14 of 17 families (82%) affected by BFIE, indicating that PRRT2 mutations are the most frequent cause of this disorder. We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. These findings show that mutations in PRRT2 cause both epilepsy and a movement disorder. Furthermore, PRRT2 mutations elicit pleiotropy in terms of both age of expression (infancy versus later childhood) and anatomical substrate (cortex versus basal ganglia).

AB - Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified heterozygous mutations in PRRT2, which encodes proline-rich transmembrane protein 2, in 14 of 17 families (82%) affected by BFIE, indicating that PRRT2 mutations are the most frequent cause of this disorder. We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. These findings show that mutations in PRRT2 cause both epilepsy and a movement disorder. Furthermore, PRRT2 mutations elicit pleiotropy in terms of both age of expression (infancy versus later childhood) and anatomical substrate (cortex versus basal ganglia).

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U2 - 10.1016/j.ajhg.2011.12.003

DO - 10.1016/j.ajhg.2011.12.003

M3 - Article

SN - 0002-9297

VL - 90

SP - 152

EP - 160

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

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