TY - JOUR
T1 - Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy
AU - for the EPGP Investigators
AU - Fallil, Zianka
AU - Pardoe, Heath
AU - Bachman, Robert
AU - Cunningham, Benjamin
AU - Parulkar, Isha
AU - Shain, Catherine
AU - Poduri, Annapurna
AU - Knowlton, Robert
AU - Kuzniecky, Ruben
AU - Abou-Khalil, Bassel
AU - Alldredge, Brian
AU - Andermann, Eva
AU - Bautista, Jocelyn
AU - Berkovic, Sam
AU - Boro, Alex
AU - Cascino, Gregory
AU - Consalvo, Damian
AU - Crumrine, Patricia
AU - Devinsky, Orrin
AU - Dlugos, Dennis
AU - Epstein, Michael
AU - Fiol, Miguel
AU - Fountain, Nathan
AU - French, Jacqueline
AU - Friedman, Daniel
AU - Geller, Eric
AU - Glauser, Tracy
AU - Glynn, Simon
AU - Haut, Sheryl
AU - Hayward, Jean
AU - Helmers, Sandra
AU - Kanner, Andres
AU - Kirsch, Heidi
AU - Kossoff, Eric
AU - Kuperman, Rachel
AU - Lowenstein, Daniel
AU - McGuire, Shannon
AU - Motika, Paul
AU - Novotny, Edward
AU - Ottman, Ruth
AU - Paolicchi, Juliann
AU - Parent, Jack
AU - Park, Kristen
AU - Risch, Neil
AU - Sadleir, Lynette
AU - Scheffer, Ingrid
AU - Shellhaas, Renee
AU - Sherr, Elliot
AU - Thio, Liu Lin
AU - Weisenberg, Judith
N1 - Publisher Copyright:
© 2015 Elsevier Inc.
PY - 2015/10/1
Y1 - 2015/10/1
N2 - Purpose: Periventricular nodular heterotopia (PVNH) is a malformation of cortical development due to impaired neuronal migration resulting in the formation of nodular masses of neurons and glial cells in close proximity to the ventricular walls. We report the clinical characteristics of the largest case series of FLNA-negative patients with seizures and bilateral periventricular heterotopia. Methods: Participants were recruited through the Epilepsy Phenome/Genome Project (EPGP), a multicenter collaborative effort to collect detailed phenotypic data and DNA on a large number of individuals with epilepsy, including a cohort with symptomatic epilepsy related to PVNH. Included subjects had epilepsy, and MRI confirmed bilateral PVNH. Magnetic resonance imaging studies were visually and quantitatively reviewed to investigate the topographic extent of PVNH, symmetry, and laterality. Key findings: We analyzed data on 71 patients with bilateral PVNH. The incidence of febrile seizures was 16.6%. There was at least one other family member with epilepsy in 36.9% of this population. Developmental delay was present in 21.8%. Focal onset seizures were the most common type of seizure presentation (79.3%). High heterotopia burden was strongly associated with female gender and trigonal nodular localization. There was no evidence for differences in brain volume between PVNH subjects and controls. No relationship was observed between heterotopic volume and gender, developmental delay, location of PVNH, ventricular or cerebellar abnormalities, laterality of seizure onset, age at seizure onset, and duration of epilepsy. Significance: A direct correlation was observed between high heterotopia burden, female gender, and trigonal location in this large cohort of FLNA-negative bilateral PVNH patients with epilepsy. Quantitative MRI measurements indicated that this correlation is based on the diffuse nature of the heterotopic nodules rather than on the total volume of abnormal heterotopic tissue.
AB - Purpose: Periventricular nodular heterotopia (PVNH) is a malformation of cortical development due to impaired neuronal migration resulting in the formation of nodular masses of neurons and glial cells in close proximity to the ventricular walls. We report the clinical characteristics of the largest case series of FLNA-negative patients with seizures and bilateral periventricular heterotopia. Methods: Participants were recruited through the Epilepsy Phenome/Genome Project (EPGP), a multicenter collaborative effort to collect detailed phenotypic data and DNA on a large number of individuals with epilepsy, including a cohort with symptomatic epilepsy related to PVNH. Included subjects had epilepsy, and MRI confirmed bilateral PVNH. Magnetic resonance imaging studies were visually and quantitatively reviewed to investigate the topographic extent of PVNH, symmetry, and laterality. Key findings: We analyzed data on 71 patients with bilateral PVNH. The incidence of febrile seizures was 16.6%. There was at least one other family member with epilepsy in 36.9% of this population. Developmental delay was present in 21.8%. Focal onset seizures were the most common type of seizure presentation (79.3%). High heterotopia burden was strongly associated with female gender and trigonal nodular localization. There was no evidence for differences in brain volume between PVNH subjects and controls. No relationship was observed between heterotopic volume and gender, developmental delay, location of PVNH, ventricular or cerebellar abnormalities, laterality of seizure onset, age at seizure onset, and duration of epilepsy. Significance: A direct correlation was observed between high heterotopia burden, female gender, and trigonal location in this large cohort of FLNA-negative bilateral PVNH patients with epilepsy. Quantitative MRI measurements indicated that this correlation is based on the diffuse nature of the heterotopic nodules rather than on the total volume of abnormal heterotopic tissue.
KW - Epilepsy
KW - Epilepsy Phenome/Genome Project
KW - Periventricular nodular heterotopia
UR - http://www.scopus.com/inward/record.url?scp=84940770562&partnerID=8YFLogxK
U2 - 10.1016/j.yebeh.2015.07.041
DO - 10.1016/j.yebeh.2015.07.041
M3 - Article
C2 - 26340046
AN - SCOPUS:84940770562
SN - 1525-5050
VL - 51
SP - 321
EP - 327
JO - Epilepsy and Behavior
JF - Epilepsy and Behavior
ER -