{'fraction_non_alphanumeric': 0.029871977240398292, 'fraction_numerical': 0.015647226173541962, 'mean_word_length': 5.901960784313726, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
A novel CACNA1A mutation associated with adult‐onset, paroxysmal head tremor

CACNA1A mutations cause a range of disorders with diverse, sometimes overlapping clinical features. Point mutations, including missense mutations, nonsense mutations, splicing mutations and small deletions/insertions, result in a variety of phenotypes including episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1). These 2 conditions show clinical overlap with spinocerebellar ataxia type 6 (SCA6), generally caused by CAG repeat expansions in the coding region of CACNA1A. We report a novel missense mutation in CACNA1A presenting with adult-onset, paroxysmal head tremor responsive to acetazolamide.