Clinical and genetic analysis of a family with two rare reflex epilepsies

Seizure

Volumn 29, Issue , 2015, Pages 90-96

  Kasteleijn Nolst Trenité, Dorothée G A ^a,b   Volkers, Linda ^a   Strengman, Eric ^a   Schippers, Herman M ^c   Perquin, Willem ^d   De Haan, Gerrit Jan ^e   Gkountidi, Anastasia O ^a   Slot, Ruben Van'T ^a   De Graaf, Stan F ^a   Jocic Jakubi, Bosanka ^f   Capovilla, Giuseppe ^g   Covanis, Athanasios ^h   Parisi, Pasquale ^b   Veggiotti, Pierangelo ⁱ   Brinciotti, Mario ^b   Incorpora, Gemma ^j   Piccioli, Marta ^k   Cantonetti, Laura ^l   Berkovic, Samuel F ^m   Scheffer, Ingrid E ^m   Brilstra, Eva H ^a   Sonsma, Anja C M ^a   Bader, Adri J ^a   De Kovel, Carolien G F ^a   Koeleman, Bobby P C ^a   more..

^a UTRECHT UNIVERSITY   (Netherlands)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c ST ANTONIUS HOSPITAL   (Netherlands)

^d MEDICAL CENTER HAAGLANDEN   (Netherlands)

^e STICHTING EPILEPSIE INSTELLINGEN NEDERLAND SEIN   (Netherlands)

^f Child Neurology   (Serbia)

^g CARLO POMA HOSPITAL   (Italy)

^h AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

ⁱ C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^j UNIVERSITY OF CATANIA   (Italy)

^k SAN FILIPPO NERI HOSPITAL   (Italy)

^l IRCCS   (Italy)

^m Epilepsy Research Institute   (Australia)

more..

Author keywords

Epilepsy; Functional study; Orofacial myoclonus; Photosensitivity; PPR; SCNM1 mutation

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CAUCASIAN; CLINICAL ARTICLE; EPILEPSY; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MALE; MIGRAINE; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPE; PHOTOSENSITIVITY; PRIORITY JOURNAL; REFLEX EPILEPSY; AGED; CASE REPORT; FAMILY; GENETICS; MIDDLE AGED; MUTATION; NETHERLANDS; PATHOPHYSIOLOGY; PEDIGREE; PHOTOSTIMULATION; VERY ELDERLY; YOUNG ADULT;

CARRIER PROTEIN; SCNM1 PROTEIN, HUMAN;

ADULT; AGED; AGED, 80 AND OVER; CARRIER PROTEINS; EPILEPSY, REFLEX; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; NETHERLANDS; PEDIGREE; PHENOTYPE; PHOTIC STIMULATION; YOUNG ADULT;

EID: 84930995127     PISSN: 10591311     EISSN: 15322688     Source Type: Journal    
DOI: 10.1016/j.seizure.2015.03.020     Document Type: Article

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