Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

Epilepsia

Volumn 58, Issue 4, 2017, Pages 565-575

  Symonds, Joseph D ^a,b   Joss, Shelagh ^c   Metcalfe, Kay A ^d,e   Somarathi, Suresh ^d   Cruden, Jamie ^f   Devlin, Anita M ^g   Donaldson, Alan ^h   DiDonato, Nataliya ⁱ   Fitzpatrick, David ^j   Kaiser, Frank J ^k   Lampe, Anne K ^l   Lees, Melissa M ^m   McLellan, Ailsa ⁿ   Montgomery, Tara ^o   Mundada, Vivek ^p   Nairn, Lesley ^q   Sarkar, Ajoy ^r   Schallner, Jens ^s   Pozojevic, Jelena ^k   Parenti, Ilaria ^k   Tan, Jeen ^t   Turnpenny, Peter ^u   Whitehouse, William P ^r,v   Zuberi, Sameer M ^a,b   more..

^a ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

^c West of Scotland Regional Genetics Service   (United Kingdom)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f Victoria Infirmary   (United Kingdom)

^g Infectious Diseases Allergy   (United Kingdom)

^h UNIVERSITY OF BRISTOL   (United Kingdom)

ⁱ DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^j UNIVERSITY OF EDINBURGH   (United Kingdom)

^k UNIVERSITY OF LÜBECK   (Germany)

^l South East Scotland Clinical Genetic Service ^*  (United Kingdom)

^m GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁿ ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^o NEWCASTLE UNIVERSITY   (United Kingdom)

^p ROYAL LONDON HOSPITAL   (United Kingdom)

^q ROYAL ALEXANDRA HOSPITAL   (United Kingdom)

^r NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^s UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^t ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^u Peninsula Clinical Genetics Service   (United Kingdom)

^v UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^w WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

more..

Author keywords

Cluster; Epilepsy; Females; Intellectual disability; SMC1A; X linked

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; GABAPENTIN; LAMOTRIGINE; LEVETIRACETAM; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; RUFINAMIDE; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; CELL CYCLE PROTEIN; NONHISTONE PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1;

ADOLESCENT; ANTICONVULSANT THERAPY; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DE LANGE SYNDROME; ELECTROENCEPHALOGRAPHY; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; INFANT; KETOGENIC DIET; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SMC1A GENE; VAGUS NERVE STIMULATION; COMPLICATION; EPILEPSY; GENETICS; HETEROZYGOTE; MALE; MUTATION;

CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION; SEIZURES;

EID: 85012241786     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13669     Document Type: Article

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