Boonsimma P - Search Results

1

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Boonsimma P, Michael Gasser M, Netbaramee W, Wechapinan T, Srichomthong C, Ittiwut C, Wagner M, Krenn M, Zimprich F, Abicht A, Biskup S, Roser T, Borggraefe I, Suphapeetiporn K, Shotelersuk V. Boonsimma P, et al. Gene. 2020 Jul 30;749:144709. doi: 10.1016/j.gene.2020.144709. Epub 2020 Apr 25. Gene. 2020. PMID: 32339621

2

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, Milenkovic I, Abicht A, Biskup S, Roser T, Shotelersuk V, Tacke M, Kuersten M, Wagner M, Borggraefe I, Suphapeetiporn K, von Stülpnagel C. Gasser M, et al. Among authors: boonsimma p. J Clin Neurosci. 2020 Feb;72:31-38. doi: 10.1016/j.jocn.2020.01.041. Epub 2020 Jan 17. J Clin Neurosci. 2020. PMID: 31959558

3

A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent.

Boonsimma P, Suwannachote S, Phokaew C, Ittiwut C, Suphapeetiporn K, Shotelersuk V. Boonsimma P, et al. Brain Dev. 2020 Aug;42(7):546-550. doi: 10.1016/j.braindev.2020.03.005. Epub 2020 Apr 3. Brain Dev. 2020. PMID: 32249079

4

Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations.

Pattrakornkul N, Ittiwut C, Boonsimma P, Boonyapisit K, Khongkhatithum C, Sanmaneechai O, Suphapeetiporn K, Shotelersuk V. Pattrakornkul N, et al. Among authors: boonsimma p. Neuromuscul Disord. 2020 Oct;30(10):851-858. doi: 10.1016/j.nmd.2020.08.362. Epub 2020 Aug 29. Neuromuscul Disord. 2020. PMID: 32978031

5

Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.

Ittiwut C, Poonmaksatit S, Boonsimma P, Desudchit T, Suphapeetiporn K, Ittiwut R, Shotelersuk V. Ittiwut C, et al. Among authors: boonsimma p. Brain Dev. 2021 Mar;43(3):490-494. doi: 10.1016/j.braindev.2020.10.016. Epub 2020 Nov 13. Brain Dev. 2021. PMID: 33190975

6

Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.

Kamolvisit W, Phowthongkum P, Boonsimma P, Kuptanon C, Rojnueangnit K, Wattanasirichaigoon D, Chanvanichtrakool M, Phuaksaman C, Wiromrat P, Srichomthong C, Ittiwut C, Phokaew C, Ittiwut R, Assawapitaksakul A, Chetruengchai W, Buasong A, Suphapeetiporn K, Shotelersuk V. Kamolvisit W, et al. Among authors: boonsimma p. Clin Genet. 2021 Jul;100(1):100-105. doi: 10.1111/cge.13963. Epub 2021 Apr 13. Clin Genet. 2021. PMID: 33822359

7

Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.

Boonsimma P, Ittiwut C, Kamolvisit W, Ittiwut R, Chetruengchai W, Phokaew C, Srichonthong C, Poonmaksatit S, Desudchit T, Suphapeetiporn K, Shotelersuk V. Boonsimma P, et al. Eur J Hum Genet. 2023 Feb;31(2):179-187. doi: 10.1038/s41431-022-01202-x. Epub 2022 Oct 5. Eur J Hum Genet. 2023. PMID: 36198807 Free PMC article.

8

Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.

Manaspon C, Boonsimma P, Phokaew C, Theerapanon T, Sriwattanapong K, Porntaveetus T, Shotelersuk V. Manaspon C, et al. Among authors: boonsimma p. Am J Med Genet A. 2021 Oct;185(10):3068-3073. doi: 10.1002/ajmg.a.62365. Epub 2021 May 26. Am J Med Genet A. 2021. PMID: 34037307

9

Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.

Kulsirichawaroj P, Likasitwattanakul S, Boonsimma P, Prangphan K, Chanvanichtrakool M. Kulsirichawaroj P, et al. Among authors: boonsimma p. Pediatr Neurol. 2022 Nov;136:50-55. doi: 10.1016/j.pediatrneurol.2022.08.003. Epub 2022 Aug 17. Pediatr Neurol. 2022. PMID: 36137348

10

A patient with atypical presentation of chronic hepatosteatosis harboring a novel variant in the CPT1A gene.

Boonsimma P, Crosby K, Mohan P, Puscasiu E, Tanpaiboon P. Boonsimma P, et al. Eur J Med Genet. 2021 Jan;64(1):104034. doi: 10.1016/j.ejmg.2020.104034. Epub 2020 Aug 8. Eur J Med Genet. 2021. PMID: 32781271

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