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45 Possible Causes for Mutation in the SCN8A Gene, Mutation in the TMEM240 Gene

  • Benign Familial Infantile Epilepsy Type 4

    BFIS5 (617080) is caused by mutation in the SCN8A gene (600702) on chromosome 12q13.[omim.org] In this patient, diagnostic exome sequencing (DES) identified a heterozygous mutation (c.4427G A; p.Gly1476Asp) in the SCN8A gene.[ncbi.nlm.nih.gov] For PKD, the PRRT2 gene has been the only known candidate so far. SCN8A discovery.[epilepsygenetics.net]

    Missing: Mutation in the TMEM240 Gene
  • Neuromuscular Junction Disorder

    Exome sequencing showed a de novo missense mutation in the SCN8A gene NM_014191:c.C5401G:p.Q1801E.[neurology.org] mutation and severe early onset epileptic encephalopathy.[neurology.org] Nav1.6 at the neuromuscular junction (NMJ) causing defects in neuromuscular transmission might play a role in the motor end plate phenotype in patients with a heterozygous SCN8A[neurology.org]

    Missing: Mutation in the TMEM240 Gene
  • Cognitive Impairment with or without Cerebellar Ataxia

    The gene, TMEM240, has various mutations in eight SCA families.[pediatricneurologybriefs.com] The present researchers identified a coding mutation in the TMEM240 gene in the original SCA21 pedigree.[pediatricneurologybriefs.com] Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative gene for spinocerebellar ataxia 21, an autosomal[pediatricneurologybriefs.com]

  • Epilepsy

    A comprehensive drug repurposing screen identified potential new candidates for the treatment of epilepsy caused by the R1872Q mutation in the SCN8A gene.[ncbi.nlm.nih.gov] A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J. Neurosci. 24, 2690–2698 (2004). 27.[doi.org] [MIM 600702 ], and STXBP1 [MIM 602926 ]) and provided clear evidence of pathogenicity for de novo mutations in two not previously implicated genes, ALG13 (MIM 300776 ) and[ncbi.nlm.nih.gov]

    Missing: Mutation in the TMEM240 Gene
  • Early Infantile Epileptic Encephalopathy Type 2

    […] a change (mutation) in the SCN8A gene.[diseaseinfosearch.org] EIEE13 – SCN8A. De novo mutations in SCN8A are a rare cause of epileptic encephalopathy and intellectual disability.[euroepinomics.wordpress.com] mutations in the ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, KCNQ2, ARHGEF9, PCDH19, PNKP, SCN2A, PLCB1 and SCN8A genes.[disabilitybenefitscenter.org]

    Missing: Mutation in the TMEM240 Gene
  • Encephalopathy

    SCN8A encephalopathy is a newly defined epileptic encephalopathy caused by de novo mutations of the SCN8A gene.[ncbi.nlm.nih.gov]

    Missing: Mutation in the TMEM240 Gene
  • Familial Infantile Myoclonic Epilepsy

    ., 2012], a recent study has identified a mild familial epilepsy syndrome with benign infantile convulsions and paroxysmal choreoathetosis due to a recurrent SCN8A mutation[karger.com] Other genes have been associated with DS including SCN2A, SCN8A, GABRA1, GABARG2, PCDH19, STXBP1, and SCN1B, but the clinical presentation in these cases is often somewhat[rarediseases.org] In 2012, whole-genome sequencing in a single family with a severely affected child revealed a de novo SCN8A mutation in the proband [ 35 ].[genomemedicine.biomedcentral.com]

    Missing: Mutation in the TMEM240 Gene
  • Generalized Epilepsy with Febrile Seizures Plus

    Other genes have been associated with DS including SCN2A, SCN8A, GABRA1, GABARG2, PCDH19, STXBP1, and SCN1B, but the clinical presentation in these cases is often somewhat[rarediseases.org] mutations is elevated above that of the general public, and thus genetic counseling is recommended.[rarediseases.org] Because of the identification of mosaicism and the possibility of mutations in egg or sperm cells (germ-line mutations), the risk of recurrence for even apparently de novo[rarediseases.org]

    Missing: Mutation in the TMEM240 Gene
  • Progressive Myoclonic Epilepsy Type 7

    , CLCN2, MTOR Specificity 3 % Genes 100 % Epilepsy, Progressive Myoclonic 7; Epm7 Is also known as ;epm7; meak; myoclonus epilepsy and ataxia due to potassium channel mutation[mendelian.co] CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B, SLC6A1, KCNT1, KCNQ2, KCNQ3, KCNC1, CHRNA2, CHRNA4, GABRA1, GABRG2, GRIN2A, TBC1D24, DEPDC5, PRRT2, RELN, SCN8A[mendelian.co]

    Missing: Mutation in the TMEM240 Gene
  • Infantile Convulsions and Choreoathetosis

    […] in 15 % of patients. 8,9 In addition to genes having previously established associations with epileptic encephalopathy (SCN1A, SCN2A, SCN8A, CDKL5, STXBP1, KCNQ2, and KCNT1[touchneurology.com] ), the studies identified a significant excess of de novo mutations in ALG13, 8 GABRB3, 8 and DNM1. 9 ALG13 is an X-linked gene encoding a subunit of uridine diphosphate-N-acetylglucosamine[touchneurology.com] Phenome/ Genome Project of patients having two classic epileptic encephalopathy syndromes, infantile spasms or West syndrome and Lennox-Gastaut syndrome (LGS) found de novo mutations[touchneurology.com]

    Missing: Mutation in the TMEM240 Gene

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