Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 86, Issue 7, 2015, Pages 782-785

  Delcourt, Marion ^a   Riant, Florence ^b,c   Mancini, Josette ^d   Milh, Mathieu ^d,e   Navarro, Vincent ^c,f   Roze, Emmanuel ^f,g   Humbertclaude, Véronique ^h   Korff, Christian ⁱ   Des Portes, Vincent ^j,k   Szepetowski, Pierre ^c,e,l   Doummar, Diane ^m   Echenne, Bernard ^a   Quintin, Samuel ⁿ   Leboucq, Nicolas ^a   Amrathlal, Rabbind Singh ^o   Rochette, Jacques ^o   Roubertie, Agathe ^a,c  

^a GUI DE CHAULIAC HOSPITAL   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c INSERM   (France)

^d TIMONE HOSPITAL   (France)

^e AIX MARSEILLE UNIVERSITY   (France)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^h HÔPITAL SAINT ELOI   (France)

ⁱ CHU Saint Eloi ^*  (Switzerland)

^j HOSPICES CIVILS DE LYON   (France)

^k UNIVERSITÉ LYON 1   (France)

^l Turing Center for Living Systems CENTURI Aix Marseille University   (France)

^m ARMAND TROUSSEAU HOSPITAL   (France)

ⁿ SAINT LOUIS HOSPITAL   (France)

^o AMIENS UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE SEVERITY; EPILEPTIC STATE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; MULTIPLEX POLYMERASE CHAIN REACTION; NEUROLOGIC EXAMINATION; PAROXYSMAL KINESIGENIC DYSKINESIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PRRT2 GENE; QUANTITATIVE ANALYSIS; YOUNG ADULT; AGE; ALLELE; ATAXIA; ATROPHY; BRAIN DISEASE; CHOREA; CHROMOSOME 16; GENE DELETION; GENETICS; INFANT; MUTATION;

MEMBRANE PROTEIN; NERVE PROTEIN; PRRT2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGE FACTORS; ALLELES; ATAXIA; ATROPHY; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; CHOREA; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; GENE DELETION; GENES; HUMANS; INFANT; LEARNING DISORDERS; MALE; MEMBRANE PROTEINS; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; YOUNG ADULT;

EID: 84928386651     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2014-309025     Document Type: Article

References (7)

1. Chen W-J, Lin Y, Xiong Z-Q, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011; 43: 1252-5.
2. Méneret A, Gaudebout C, Riant F, et al. PRRT2 mutations and paroxysmal disorders. Eur J Neurol 2013; 20: 872-8.
3. Najmabadi H, Hu H, Garshasbi M, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011; 478: 57-63.
4. Labate A, Tarantino P, Viri M, et al. Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. Epilepsia 2012; 53: e196-9.
5. Shinawi M, Liu P, Kang SHL, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2010; 47: 332-41.
6. Guerrero-López R, Ortega-Moreno L, Giráldez BG, et al. Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the. Epilepsy Res 2014; 108: 1274-8.
7. Djemie T, Weckhuysen S, Holmgren P, et al. PRRT2 mutations: exploring the phenotypical boundaries. J Neurol Neurosurg Psychiatr 2014; 85: 462-5.