Protocadherin 19 mutations in girls with infantile-onset epilepsy

C. Marini; D. Mei; Daniele Mei; L. Parmeggiani; V. Norci; E. Calado; A. Ferrari; A. Moreira; T. Pisano; N. Specchio; F. Vigevano; Domenica Immacolata Battaglia; R. Guerrini

doi:10.1212/WNL.0b013e3181ed9e67

Protocadherin 19 mutations in girls with infantile-onset epilepsy

C. Marini
, D. Mei
, Daniele Mei
, L. Parmeggiani
, V. Norci
, E. Calado
, A. Ferrari
, A. Moreira
, T. Pisano
, N. Specchio
, F. Vigevano
, Domenica Immacolata Battaglia
, R. Guerrini

Azienda Ospedaliero Universitaria Meyer
Servizio di Neuropsichiatria Infantile
Hospital de Dona Estefânia
IRCCS Fondazione Stella Maris - Calambrone (Pisa)
IRCCS Ospedale pediatrico Bambino Gesù - Roma

Risultato della ricerca: Contributo in rivista › Articolo

105 Citazioni (Scopus)

Abstract

To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy.

Lingua originale	Inglese
pagine (da-a)	646-653
Numero di pagine	8
Rivista	Neurology
Volume	75
DOI	https://doi.org/10.1212/WNL.0b013e3181ed9e67
Stato di pubblicazione	Pubblicato - 2010

Keywords

Age of Onset
Cadherins
Electroencephalography
Female
Humans
Infant
Magnetic Resonance Imaging
Point Mutation
Seizures, Febrile

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10.1212/WNL.0b013e3181ed9e67

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title = "Protocadherin 19 mutations in girls with infantile-onset epilepsy",

abstract = "To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy.",

keywords = "Age of Onset, Cadherins, Electroencephalography, Female, Humans, Infant, Magnetic Resonance Imaging, Point Mutation, Seizures, Febrile, Age of Onset, Cadherins, Electroencephalography, Female, Humans, Infant, Magnetic Resonance Imaging, Point Mutation, Seizures, Febrile",

author = "C. Marini and D. Mei and Daniele Mei and L. Parmeggiani and V. Norci and E. Calado and A. Ferrari and A. Moreira and T. Pisano and N. Specchio and F. Vigevano and Battaglia, \{Domenica Immacolata\} and R. Guerrini",

year = "2010",

doi = "10.1212/WNL.0b013e3181ed9e67",

language = "English",

volume = "75",

pages = "646--653",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

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TY - JOUR

T1 - Protocadherin 19 mutations in girls with infantile-onset epilepsy

AU - Marini, C.

AU - Mei, D.

AU - Mei, Daniele

AU - Parmeggiani, L.

AU - Norci, V.

AU - Calado, E.

AU - Ferrari, A.

AU - Moreira, A.

AU - Pisano, T.

AU - Specchio, N.

AU - Vigevano, F.

AU - Battaglia, Domenica Immacolata

AU - Guerrini, R.

PY - 2010

Y1 - 2010

N2 - To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy.

AB - To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy.

KW - Age of Onset

KW - Cadherins

KW - Electroencephalography

KW - Female

KW - Humans

KW - Infant

KW - Magnetic Resonance Imaging

KW - Point Mutation

KW - Seizures, Febrile

KW - Age of Onset

KW - Cadherins

KW - Electroencephalography

KW - Female

KW - Humans

KW - Infant

KW - Magnetic Resonance Imaging

KW - Point Mutation

KW - Seizures, Febrile

UR - http://hdl.handle.net/10807/31929

U2 - 10.1212/WNL.0b013e3181ed9e67

DO - 10.1212/WNL.0b013e3181ed9e67

M3 - Article

SN - 0028-3878

VL - 75

SP - 646

EP - 653

JO - Neurology

JF - Neurology

ER -

Protocadherin 19 mutations in girls with infantile-onset epilepsy

Abstract

Keywords

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