|
[1]
|
Ramos-Lizana, J., Martinez-Espinosa, G., Rodriguez-Lucenilla, M.I., et al. (2018) [Frequency, Semiology and Prognosis of Benign Infantile Epilepsy]. Revue Neurologique, 66, 254-260. [Google Scholar] [CrossRef]
|
|
[2]
|
Symonds, J.D., Elliott, K.S., Shetty, J., et al. (2021) Early Childhood Epilepsies: Epidemiology, Classification, Aetiology, and Socio-Economic Determinants. Brain, 144, 2879-2891. [Google Scholar] [CrossRef] [PubMed]
|
|
[3]
|
Vigevano, F., Fusco, L., Di Capua, M., et al. (1992) Benign Infantile Familial Convulsions. European Journal of Pediatrics, 151, 608-612. [Google Scholar] [CrossRef]
|
|
[4]
|
Bayat, A., Bayat, M., Rubboli, G., et al. (2021) Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy. Genes, 12, Article 1051. [Google Scholar] [CrossRef] [PubMed]
|
|
[5]
|
Nardello, R., Mangano, G.D., Miceli, F., et al. (2020) Benign Familial Infantile Epilepsy Associated with KCNQ3 Mutation: A Rare Occurrence or an Underestimated Event? Epileptic Disorders, 22, 807-810. [Google Scholar] [CrossRef] [PubMed]
|
|
[6]
|
Zeng, Q., Yang, X., Zhang, J., et al. (2018) Genetic Analysis of Benign Familial Epilepsies in the First Year of Life in a Chinese Cohort. Journal of Human Genetics, 63, 9-18. [Google Scholar] [CrossRef] [PubMed]
|
|
[7]
|
Heron, S.E., Grinton, B.E., Kivity, S., et al. (2012) PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome. The American Journal of Human Genetics, 90, 152-160. [Google Scholar] [CrossRef] [PubMed]
|
|
[8]
|
Chen, W.J., Lin, Y., Xiong, Z.Q., et al. (2011) Exome Sequencing Identifies Truncating Mutations in PRRT2 That Cause Paroxysmal Kinesigenic Dyskinesia. Nature Genetics, 43, 1252-1255. [Google Scholar] [CrossRef] [PubMed]
|
|
[9]
|
Schubert, J., Paravidino, R., Becker, F., et al. (2012) PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures. Human Mutation, 33, 1439-1443. [Google Scholar] [CrossRef] [PubMed]
|
|
[10]
|
Michetti, C., Castroflorio, E., Marchionni, I., et al. (2017) The PRRT2 Knockout Mouse Recapitulates the Neurological Diseases Associated with PRRT2 Mutations. Neurobiology of Disease, 99, 66-83. [Google Scholar] [CrossRef] [PubMed]
|
|
[11]
|
Fruscione, F., Valente, P., Sterlini, B., et al. (2018) PRRT2 Controls Neuronal Excitability by Negatively Modulating Na Channel 1.2/1.6 Activity. Brain, 141, 1000-1016. [Google Scholar] [CrossRef] [PubMed]
|
|
[12]
|
Lee, J., Kim, Y.O., Lim, B.C., et al. (2023) PRRT2-Positive Self-Limited Infantile Epilepsy: Initial Seizure Characteristics and Response to Sodium Channel Blockers. Epilepsia Open, 8, 436-443. [Google Scholar] [CrossRef] [PubMed]
|
|
[13]
|
Döring, J.H., Saffari, A., Bast, T., et al. (2022) Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy. Neurology Genetics, 8, e200020. [Google Scholar] [CrossRef]
|
|
[14]
|
Liu, Y.T., Nian, F.S., Chou, W.J., et al. (2016) PRRT2 Mutations Lead to Neuronal Dysfunction and Neurodevelopmental Defects. Oncotarget, 7, 39184-39196. [Google Scholar] [CrossRef] [PubMed]
|
|
[15]
|
Delcourt, M., Riant, F., Mancini, J., et al. (2015) Severe Phenotypic Spectrum of Biallelic Mutations in PRRT2 Gene. Journal of Neurology, Neurosurgery & Psychiatry, 86, 782-785. [Google Scholar] [CrossRef] [PubMed]
|
|
[16]
|
Tsai, M.H., Nian, F.S., Hsu, M.H., et al. (2019) PRRT2 Missense Mutations Cluster Near C-Terminus and Frequently Lead to Protein Mislocalization. Epilepsia, 60, 807-817. [Google Scholar] [CrossRef] [PubMed]
|
|
[17]
|
Zeng, Q., Yang, Y., Duan, J., et al. (2022) SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis. Frontiers in Molecular Neuroscience, 15, Article 809951. [Google Scholar] [CrossRef] [PubMed]
|
|
[18]
|
Goto, A., Ishii, A., Shibata, M., et al. (2019) Characteristics of KCNQ2 Variants Causing Either Benign Neonatal Epilepsy or Developmental and Epileptic Encephalopathy. Epilepsia, 60, 1870-1880. [Google Scholar] [CrossRef] [PubMed]
|
|
[19]
|
Lee, W.L., Low, P.S. and Rajan, U. (1993) Benign Familial Infantile Epilepsy. The Journal of Pediatrics, 123, 588-590. [Google Scholar] [CrossRef]
|
|
[20]
|
Zuberi, S.M., Wirrell, E., Yozawitz, E., et al. (2022) ILAE Classification and Definition of Epilepsy Syndromes with Onset in Neonates and Infants: Position Statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 63, 1349-1397. [Google Scholar] [CrossRef] [PubMed]
|
|
[21]
|
Kikuchi, K., Hamano, S., Higurashi, N., et al. (2015) Difficulty of Early Diagnosis and Requirement of Long-Term Follow-Up in Benign Infantile Seizures. Pediatric Neurology, 53, 157-162. [Google Scholar] [CrossRef] [PubMed]
|
|
[22]
|
Zhao, Q., Hu, Y., Liu, Z., et al. (2021) PRRT2 Variants and Effectiveness of Various Antiepileptic Drugs in Self-Limited Familial Infantile Epilepsy. Seizure, 91, 360-368. [Google Scholar] [CrossRef] [PubMed]
|
|
[23]
|
Zhao, B., Liao, S., Zhong, X., et al. (2022) Effectiveness and Safety of Oxcarbazepine vs. Levetiracetam as Monotherapy for Infantile Focal Epilepsy: A Longitudinal Cohort Study. Frontiers in Neurology, 13, Article 909191. [Google Scholar] [CrossRef] [PubMed]
|
|
[24]
|
Bozaykut, A., Aksoy, H.U., Sezer, R.G., et al. (2015) Evaluation of Clinical Course and Neurocognition in Children with Self-Limited Infantile Epilepsy in a Turkish Cohort Study. Journal of Child Neurology, 30, 314-319. [Google Scholar] [CrossRef] [PubMed]
|
|
[25]
|
Cossu, A., Santos, J.L., Galati, G., et al. (2023) PRRT2 Benign Familial Infantile Seizures (BFIS) with Atypical Evolution to Encephalopathy Related to Status Epilepticus during Sleep (ESES). Neurological Sciences, 44, 2173-2176. [Google Scholar] [CrossRef] [PubMed]
|