Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

C Marini; F Darra; N Specchio; D Mei; A Terracciano; L Parmeggiani; A Ferrari; F Sicca; M Mastrangelo; L Spaccini; Ml Canopoli; E Cesaroni; N Zamponi; L Caffi; P Ricciardelli; S Grosso; T Pisano; Mp Canevini; T Granata; P Accorsi; Domenica Immacolata Battaglia; R Cusmai; F Vigevano; B Dalla Bernardina; R. Guerrini

doi:10.1111/j.1528-1167.2012.03649.x

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

C Marini, F Darra, N Specchio, D Mei, A Terracciano, L Parmeggiani, A Ferrari, F Sicca, M Mastrangelo, L Spaccini, Ml Canopoli, E Cesaroni, N Zamponi, L Caffi, P Ricciardelli, S Grosso, T Pisano, Mp Canevini, T Granata, P AccorsiDomenica Immacolata Battaglia, R Cusmai, F Vigevano, B Dalla Bernardina, R. Guerrini^*

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo

59 Citazioni (Scopus)

Abstract

Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. Despite the increasing number of patients and mutations reported, the epilepsy phenotype associated with PCDH19 mutations is still unclear. We analyzed seizure semiology through ictal video-electroencephalography (EEG) recordings in a large series of patients.

Lingua originale	Inglese
pagine (da-a)	2111-2119
Numero di pagine	9
Rivista	Epilepsia
Volume	53
Numero di pubblicazione	12
DOI	https://doi.org/10.1111/j.1528-1167.2012.03649.x
Stato di pubblicazione	Pubblicato - 2012

All Science Journal Classification (ASJC) codes

Neurologia
Neurologia (clinica)

Keywords

Adolescent
Adult
Affective Symptoms
Cadherins
Child
Cognition Disorders
Computational Biology
DNA Mutational Analysis
Electroencephalography
Female
Follow-Up Studies
Genetic Predisposition to Disease
Humans
Mutation
Neuropsychological Tests
Preschool
Seizures
Video Recording
Young Adult

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10.1111/j.1528-1167.2012.03649.x

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Marini, C., Darra, F., Specchio, N., Mei, D., Terracciano, A., Parmeggiani, L., Ferrari, A., Sicca, F., Mastrangelo, M., Spaccini, L., Canopoli, M., Cesaroni, E., Zamponi, N., Caffi, L., Ricciardelli, P., Grosso, S., Pisano, T., Canevini, M., Granata, T., ... Guerrini, R. (2012). Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. Epilepsia, 53(12), 2111-2119. https://doi.org/10.1111/j.1528-1167.2012.03649.x

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title = "Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy",

abstract = "Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. Despite the increasing number of patients and mutations reported, the epilepsy phenotype associated with PCDH19 mutations is still unclear. We analyzed seizure semiology through ictal video-electroencephalography (EEG) recordings in a large series of patients.",

keywords = "Adolescent, Adult, Affective Symptoms, Cadherins, Child, Cognition Disorders, Computational Biology, DNA Mutational Analysis, Electroencephalography, Female, Follow-Up Studies, Genetic Predisposition to Disease, Humans, Mutation, Neuropsychological Tests, Preschool, Seizures, Video Recording, Young Adult, Adolescent, Adult, Affective Symptoms, Cadherins, Child, Cognition Disorders, Computational Biology, DNA Mutational Analysis, Electroencephalography, Female, Follow-Up Studies, Genetic Predisposition to Disease, Humans, Mutation, Neuropsychological Tests, Preschool, Seizures, Video Recording, Young Adult",

author = "C Marini and F Darra and N Specchio and D Mei and A Terracciano and L Parmeggiani and A Ferrari and F Sicca and M Mastrangelo and L Spaccini and Ml Canopoli and E Cesaroni and N Zamponi and L Caffi and P Ricciardelli and S Grosso and T Pisano and Mp Canevini and T Granata and P Accorsi and Battaglia, {Domenica Immacolata} and R Cusmai and F Vigevano and {Dalla Bernardina}, B and R. Guerrini",

year = "2012",

doi = "10.1111/j.1528-1167.2012.03649.x",

language = "English",

volume = "53",

pages = "2111--2119",

journal = "Epilepsia",

issn = "0013-9580",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "12",

}

Marini, C, Darra, F, Specchio, N, Mei, D, Terracciano, A, Parmeggiani, L, Ferrari, A, Sicca, F, Mastrangelo, M, Spaccini, L, Canopoli, M, Cesaroni, E, Zamponi, N, Caffi, L, Ricciardelli, P, Grosso, S, Pisano, T, Canevini, M, Granata, T, Accorsi, P, Battaglia, DI, Cusmai, R, Vigevano, F, Dalla Bernardina, B & Guerrini, R 2012, 'Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy', Epilepsia, vol. 53, n. 12, pagg. 2111-2119. https://doi.org/10.1111/j.1528-1167.2012.03649.x

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T1 - Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

AU - Marini, C

AU - Darra, F

AU - Specchio, N

AU - Mei, D

AU - Terracciano, A

AU - Parmeggiani, L

AU - Ferrari, A

AU - Sicca, F

AU - Mastrangelo, M

AU - Spaccini, L

AU - Canopoli, Ml

AU - Cesaroni, E

AU - Zamponi, N

AU - Caffi, L

AU - Ricciardelli, P

AU - Grosso, S

AU - Pisano, T

AU - Canevini, Mp

AU - Granata, T

AU - Accorsi, P

AU - Battaglia, Domenica Immacolata

AU - Cusmai, R

AU - Vigevano, F

AU - Dalla Bernardina, B

AU - Guerrini, R.

PY - 2012

Y1 - 2012

N2 - Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. Despite the increasing number of patients and mutations reported, the epilepsy phenotype associated with PCDH19 mutations is still unclear. We analyzed seizure semiology through ictal video-electroencephalography (EEG) recordings in a large series of patients.

AB - Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. Despite the increasing number of patients and mutations reported, the epilepsy phenotype associated with PCDH19 mutations is still unclear. We analyzed seizure semiology through ictal video-electroencephalography (EEG) recordings in a large series of patients.

KW - Adolescent

KW - Adult

KW - Affective Symptoms

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KW - DNA Mutational Analysis

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KW - Young Adult

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KW - Cadherins

KW - Child

KW - Cognition Disorders

KW - Computational Biology

KW - DNA Mutational Analysis

KW - Electroencephalography

KW - Female

KW - Follow-Up Studies

KW - Genetic Predisposition to Disease

KW - Humans

KW - Mutation

KW - Neuropsychological Tests

KW - Preschool

KW - Seizures

KW - Video Recording

KW - Young Adult

UR - https://publicatt.unicatt.it/handle/10807/63460

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U2 - 10.1111/j.1528-1167.2012.03649.x

DO - 10.1111/j.1528-1167.2012.03649.x

M3 - Article

SN - 0013-9580

VL - 53

SP - 2111

EP - 2119

JO - Epilepsia

JF - Epilepsia

IS - 12

ER -

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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