Benign Paroxysmal Torticollis Of Infancy

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.

Genes related to Benign Paroxysmal Torticollis Of Infancy

CACNA1A

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Benign Paroxysmal Torticollis Of Infancy

Ataxia
Vomiting
Irritability
Pallor
Vertigo
Migraine
Torticollis
Apathy
Drowsiness
Abnormal head movements

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Benign Paroxysmal Torticollis Of Infancy extracted from public data.

Benign Paroxysmal Torticollis Of Infancy Experts map

Current Researchs and researchers

PORTO — Pr Isabel SILVEIRA
Investigator of research project
- Institution/s:
  — Instituto de Biologia Molecular e Celular
- Research area/topic::
  CACNA1A gene involvement in cognition and synaptic function in calcium channel disease.

Benign Paroxysmal Torticollis Of Infancy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCA6 (CACNA1A) Repeat Expansion Test. By Athena Diagnostics Inc (United States). CACNA1A Specificity 100 % Genes 100 %
Ataxia, Common Repeat Expansion Evaluation. By Athena Diagnostics Inc (United States). ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATXN3 Specificity 13 % Genes 100 %
Episodic Ataxia Evaluation. By Athena Diagnostics Inc (United States). SLC1A3, CACNA1A, CACNB4, KCNA1 Specificity 25 % Genes 100 %
Ataxia, Comprehensive Evaluation. By Athena Diagnostics Inc (United States). SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...) View the complete list with 22 more genes Panel complete gene list SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14, SIL1, FLVCR1, ANO10, MTPAP, ATN1, AFG3L2, EEF2, FGF14, FXN, SETX, GRM1, ITPR1, KCNA1, KCNC3, KCND3, ATXN3, MRE11, ATM, PDYN, POLG, PPP2R2B, PRKCG Specificity 3 % Genes 100 %
Ataxia, Supplemental Dominant Evaluation. By Athena Diagnostics Inc (United States). SLC1A3, SPTBN2, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG Specificity 7 % Genes 100 %
Ataxia, Complete Dominant Evaluation. By Athena Diagnostics Inc (United States). ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...) View the complete list with 5 more genes Panel complete gene list ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, ATXN3, PDYN, PPP2R2B, PRKCG Specificity 4 % Genes 100 %
Hemiplegic Migraine Sequencing Evaluation. By Athena Diagnostics Inc (United States). SCN1A, CACNA1A, ATP1A2 Specificity 34 % Genes 100 %
CACNA1A Sequencing Test. By Athena Diagnostics Inc (United States). CACNA1A Specificity 100 % Genes 100 %