Disease #05417 (AHC (hemiplegia, alternating, of childhood (AHC)))

Official abbreviation	AHC
Name	hemiplegia, alternating, of childhood (AHC)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	102
Phenotype entries for this disease	100
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-04-03 21:28:03 +02:00 (CEST)
Date last edited	N/A

Individuals

Legend

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

102 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00001573	-	-	-	-	-	China	Chinese	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	7	Yangxiaoling
00155756	A06703	-	-	M	yes	China	Chinese	04y	-	-	-	AHC	Abnormal eye movement, dystonia, automatic dysfunction, development delay.	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00163664	228422324-Pat	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	2	Johan den Dunnen
00163665	228422324-1	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163666	228422324-T	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163667	228422324-CX	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163668	228422324-N	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163669	228422324-E	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163670	228422324-BT	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163671	228422324-CW	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163672	228422324-BR	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163673	228422324-Pat	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	26	Johan den Dunnen
00163674	228422324-Pat	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	6	Johan den Dunnen
00163675	228422324-BT	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163676	228422324-CX	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163677	228422324-D	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163678	228422324-F	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163679	228422324-BS	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163680	228422324-S	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163681	228422324-Pat	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	3	Johan den Dunnen
00163682	228422324-A	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163683	228422324-Pat	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	15	Johan den Dunnen
00163684	228422324-Pat	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	3	Johan den Dunnen
00163685	228422324-G	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163686	228422324-O	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163687	228422324-BV	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163688	228422324-Pat	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	5	Johan den Dunnen
00163689	228422324-Pat	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	2	Johan den Dunnen
00163690	228422324-BU	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163691	228422324-AL	PubMed: Heinzen 2012	-	-	-	-	-	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163692	A02103	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163693	A01903	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163694	A03203	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163695	A01403	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163696	A02603	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163697	A00603	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163698	A03603	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163699	A01103	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163700	A02003	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163701	A02403	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163702	A02203	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163703	A02503	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163704	A03103	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163705	A04203	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163706	A03503	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163707	A02803	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163708	A03703	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163709	A03903	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163710	A04603	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163711	A00303	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163712	A00403	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163713	A00703	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163714	A00503	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163715	A01303	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163716	A01503	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163717	A03303	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163718	A04003	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163719	A02303	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163720	A04103	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163721	A02703	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163722	A00103	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163723	A00203	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163724	A01603	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163725	A03003	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163726	A02903	PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163727	A01203	PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163728	A05003	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163729	A06403	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163730	A04803	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163731	A06103	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163732	A05603	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163733	A05604	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163734	A06203	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163735	A05403	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163736	A06003	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163737	A06303	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163738	A05903	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163739	A05203	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163740	A05303	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	F	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163741	A05503	PubMed: Bourgeois 1993, PubMed: Yang 2014	-	M	no	China	Han	-	-	-	-	AHC	-	ATP1A3	ATP1A3	1	1	Gao Hua
00163984	A11603	-	-	M	yes	China	Chinese	-	-	-	-	AHC	Abnormal eye movement, dystonia, can not walk by himself (4y)	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00163999	A11103	-	-	F	yes	China	Chinese	-	-	-	flunarizine +	AHC	Abnormal eye movement, dystonia, automatic dysfunction, dysphagia, slight development delay	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00164000	A11203	-	-	F	yes	China	Chinese	-	-	-	VPA/LEV/TPM	AHC	Epileptic seizure, automatic dysfunction, dysarthria, respiritary disturbance, ataxia, and slight developmental delay	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00164001	A11303	-	-	F	yes	China	Chinese	-	-	-	flunarizine +	AHC	hemiplegia start at 11m, 7-8 times/m, Epileptic seizure (GTCS), quadriplegia, abnormal eye movement, dystonia, developmental delay	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00164002	A10303	-	-	F	yes	China	Chinese	-	-	-	-	AHC	Hemiplegia start at 10m, 2 time/m, abnormal eye movement, dystonia, slight developmental delay (language delay)	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00164003	A11503	-	-	M	yes	China	Chinese	-	-	-	-	AHC	Hemiplegia start at 8m, 2 times/m, dystonia, quadriplegia, abnormal eye movement, dysarthria, ataxia, choreography, slight developmental delay (language delay)	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00164004	A11603	-	-	M	yes	China	Chinese	-	-	-	-	AHC	Abnormal eye movement, dystonia, developmental delay (can not walk by himself at 4y)	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00164005	A11703	-	-	M	yes	China	Chinese	-	-	-	-	AHC	Hemiplegia first onset at 18m, 3-5 times/m, dysarthria, language delay	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00164006	A11803	-	-	M	yes	China	Chinese	-	-	-	-	AHC	Hemiplegia first onset at 1m, quadriplegia, dystonia, epileptic seizure, dysphagia, dysarthria, ataxia, developmental delay, language delay	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00164007	A12003	-	-	F	yes	China	Chinese	-	-	-	-	AHC	Hemiplegia first onset at 7m, 2-3 times/m, dystonia, epileptic seizure, automatic dysfunction, dysphagia, respiritary disturbance, slight developmental delay, language delay	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00164008	A12303	-	-	M	yes	China	Chinese	-	-	-	-	AHC	Hemiplegia first onset 5m, 2 times/m, dystonia, quadriplegia, epileptic seizure, dysphagia, slight developmental delay, language delay	ATP1A3	ATP1A3	1	1	Xiaoxu Yang
00239792	-	-	-	M	no	Thailand	Asian	-	-	-	Flunarizine	AHC	Nystagmus (HP:0000639) Global developmental delay (HP:0001263) Epilepsy (HP:0001250) Status epilepticus (HP:0002133) Episodic quadriplegia (HP:0200072) Episodic hemiplegia (HP:0012194)	ATP1A3	ATP1A3	1	1	Ponghatai Damrongphol
00239793	-	-	-	F	?	Thailand	Asian	21y	-	-	-	AHC	Dystonia HP:0001332	ATP1A3	ATP1A3	1	1	Ponghatai Damrongphol
00358945	-	Journal: Cordani 2021	-	-	-	Italy	-	-	-	-	-	AHC	Episodic hemiplegia (HP:0012194); Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Intellectual disability, moderate (HP:0002342); no Seizure (-HP:0001250); no Dystonia (-HP:0001332); no Myoclonus (-HP:0001336)	ATP1A3	ATP1A3	1	1	Elisa De Grandis
00359272	-	Journal: Cordani 2021	-	-	-	Italy	-	-	-	-	-	AHC	Episodic hemiplegia (HP:0012194); Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Dystonia (HP:0001332); Myoclonus (HP:0001336); Seizure (HP:0001250); Intellectual disability, severe (HP:0010864)	ATP1A3	ATP1A3	1	1	Elisa De Grandis
00359340	-	Journal: Cordani 2021	-	-	-	-	-	-	-	-	-	AHC	Episodic hemiplegia (HP:0012194); Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Dystonia (HP:0001332); Chorea (HP:0002072); Intellectual disability (HP:0001249)	ATP1A3	ATP1A3	1	1	Elisa De Grandis
00359343	-	Journal: Cordani 2021	-	-	-	Italy	-	-	-	-	-	AHC	Episodic hemiplegia (HP:0012194); Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Seizure (HP:0001250)	ATP1A3	ATP1A3	1	1	Elisa De Grandis
00359350	-	Journal: Cordani 2021	-	-	-	-	-	-	-	-	-	AHC	Episodic hemiplegia (HP:0012194); Abnormality of eye movement (HP:0000496); Seizure (HP:0001250); Dystonia (HP:0001332); Intellectual disability (HP:0001249)	ATP1A3	ATP1A3	1	1	Elisa De Grandis
00359352	-	Journal: Cordani 2021	-	-	-	-	-	-	-	-	-	AHC	Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Dystonia (HP:0001332); Seizure (HP:0001250); Intellectual disability, moderate (HP:0002342)	ATP1A3	ATP1A3	1	1	Elisa De Grandis
00359354	-	Journal: Cordani 2021	-	-	-	-	-	-	-	-	-	AHC	Episodic hemiplegia (HP:0012194); Abnormality of eye movement (HP:0000496); Dystonia (HP:0001332); Seizure (HP:0001250); Intellectual disability (HP:0001249);	ATP1A3	ATP1A3	1	1	Elisa De Grandis

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Global Variome shared LOVD