Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Brain

Volumn 139, Issue 9, 2016, Pages 2420-2430

  Hardies, Katia ^a,b   Cai, Yiying ^c   Jardel, Claude ^d,e   Jansen, Anna C ^f   Cao, Mian ^c   May, Patrick ^g,h   Djémié, Tania ^a,b   Hachon Le Camus, Caroline ⁱ   Keymolen, Kathelijn ^f   Deconinck, Tine ^a,b   Bhambhani, Vikas ^j   Long, Catherine ^j   Sajan, Samin A ^k   Helbig, Katherine L ^k   Suls, Arvid ^a,b,l   Balling, Rudi ^g   Helbig, Ingo ^m,n   De Jonghe, Peter ^a,b,o   Depienne, Christel ^e,p   De Camilli, Pietro ^c   Weckhuysen, Sarah ^a,b,o   more..

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c YALE UNIVERSITY   (United States)

^d INSTITUT COCHIN   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^g UNIVERSITY OF LUXEMBOURG   (Luxembourg)

^h INSTITUTE FOR SYSTEMS BIOLOGY   (United States)

ⁱ HÔPITAL DES ENFANTS   (France)

^j CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^k AMBRY GENETICS   (United States)

^l UNIVERSITY OF ANTWERP   (Belgium)

^m UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

ⁿ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^o ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^p SORBONNE UNIVERSITÉ   (France)

more..

Author keywords

early onset epilepsy; neurodegenerative disorder; recessive disorder; SYNJ1; SYNJ1 dual phosphatase activity

Indexed keywords

MESSENGER RNA; SYNAPTOJANIN; SYNJ1 PROTEIN; UNCLASSIFIED DRUG; NERVE PROTEIN; PHOSPHATASE; PHOSPHOINOSITIDE 5-PHOSPHATASE; POLYPHOSPHOINOSITIDE PHOSPHATASE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLONIC SEIZURE; DEGENERATIVE DISEASE; DISEASE COURSE; DRUG RESISTANT EPILEPSY; ENZYME ACTIVITY; FEEDING DIFFICULTY; FEMALE; GENETIC DISORDER; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NEXT GENERATION SEQUENCING; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SIBLING; STOP CODON; TONIC CLONIC SEIZURE; COHORT ANALYSIS; CONSANGUINITY; EXOME; GENETICS; ONSET AGE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD;

AGE OF ONSET; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CONSANGUINITY; DRUG RESISTANT EPILEPSY; EXOME; FEMALE; HUMANS; MALE; NERVE TISSUE PROTEINS; NEURODEGENERATIVE DISEASES; PEDIGREE; PHENOTYPE; PHOSPHORIC MONOESTER HYDROLASES;

EID: 84994817804     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aww180     Document Type: Article

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