Neuro genetics

A case of sporadic erythromelalgia presenting with small fibre neuropathy
Pavan Patel, Yan Zhang, Lynne H Unikel, Christopher Edwards

BMJ Case Reports CP Oct 2019, 12 (10) e230549; DOI: 10.1136/bcr-2019-230549
Infantile refractory seizures due to de novo KCNT 1 mutation
Mahdi Alsaleem, Vivien Carrion, Arie Weinstock, Praveen Chandrasekharan

BMJ Case Reports CP Oct 2019, 12 (10) e231178; DOI: 10.1136/bcr-2019-231178
Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1
Weiyi Mu, Laura Tochen, Caroline Bertsch, Harvey S Singer, Kristin W Barañano

BMJ Case Reports CP May 2019, 12 (5) e228782; DOI: 10.1136/bcr-2018-228782
Rapidly progressive global cerebral atrophy in the setting of anti-LGI1 encephalitis
Anudeep Yelam, Elanagan Nagarajan, Pradeep C Bollu

BMJ Case Reports CP May 2019, 12 (5) e228428; DOI: 10.1136/bcr-2018-228428
Intellectual disability in boys: mark the face!
Surya Saini, Bhanudeep Singanamala, Arushi Gahlot Saini

BMJ Case Reports CP May 2019, 12 (5) e229271; DOI: 10.1136/bcr-2019-229271
Anti-HMGCR antibody-associated necrotising myopathy and its association with statin use
Ylenia Abdilla, Charmaine Chircop, Norbert Vella

Case Reports Nov 2018, 2018 bcr-2018-226302; DOI: 10.1136/bcr-2018-226302
Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder
Pulkit Rangarh, Neera Kohli

Case Reports May 2018, 2018 bcr-2017-223858; DOI: 10.1136/bcr-2017-223858
Hereditary sensory and autonomic neuropathy in a male child: ‘The other side of not feeling pain’
Nripen Gaur, Rachna Meel, Shahnaz Anjum, Pallavi Singh

Case Reports Sep 2018, 2018 bcr-2018-226873; DOI: 10.1136/bcr-2018-226873
Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia
Jacopo C DiFrancesco, Giuseppe Isimbaldi, Maria Francesca Bedeschi, Barbara Castellotti

Case Reports Feb 2018, 2018 bcr-2017-223390; DOI: 10.1136/bcr-2017-223390
Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxia
Arushi Gahlot Saini, Savita Attri, N Sankhyan, Pratibha Singhi

Case Reports Apr 2018, 2018 bcr-2017-220193; DOI: 10.1136/bcr-2017-220193

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Neuro genetics

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