Genetic heterogeneity in malignant migrating partial seizures of infancy

Annals of Neurology

Volumn 75, Issue 2, 2014, Pages 324-326

  Striano, Pasquale ^a,b   Coppola, Giangennaro ^c   Zara, Federico ^b   Nabbout, Rima ^d  

^a UNIVERSITY OF GENOA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c UNIVERSITY OF SALERNO   (Italy)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN REGION; CLINICAL FEATURE; FOCAL EPILEPSY; GAIN OF FUNCTION MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; LENNOX GASTAUT SYNDROME; LETTER; MALIGNANT MIGRATING PARTIAL SEIZURE INFANCY; NEUROBIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN INTERACTION;

EPILEPSY, BENIGN NEONATAL; EXOME; FEMALE; HUMANS; MALE; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS;

EID: 84896543101     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24061     Document Type: Letter

References (6)

1. McTague A, Appleton R, Avula S, et al. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain 2013; 136 (pt 5): 1578-1591.
2. Barcia G, Fleming MR, Deligniere A, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 2012; 44: 1255-1259.
3. Carranza Rojo D, Hamiwka L, McMahon JM, et al. De novo SCN1A mutations in migrating partial seizures of infancy. Neurology 2011; 77: 380-383.
4. Poduri A, Chopra SS, Neilan EG, et al. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia 2012; 53: e146-e150.
5. Milh M, Falace A, Villeneuve N, et al. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum Mutat 2013; 34: 869-872.
6. Poduri A, Heinzen EL, Chitsazzadeh V, et al. SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol 2013 Oct 17. DOI: 10.1002/ana.23998 [Epub ahead of print].